ALKAPTONURIA.CIB.CSIC.ES

AKUdatabase

Homogentisate 1,2 Dioxygenase Locus (. Mutation and Polymorphism Database Home Page. CONSEJO SUPERIOR DE INVESTIGACIONES CIENTÍFICAS. Centro de Investigaciones Biológicas. This World Wide Web Site contains published and unpublished mutations and polymorphisms in the. Gene It is mostly based on work done in the laboratories of Miguel Angel Peñalva and Santiago Rodríguez de Córdoba. This site is freely accessible and can be reproduced if proper reference is made to the database and its contributors.

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AKUdatabase | alkaptonuria.cib.csic.es Reviews

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Homogentisate 1,2 Dioxygenase Locus (. Mutation and Polymorphism Database Home Page. CONSEJO SUPERIOR DE INVESTIGACIONES CIENTÍFICAS. Centro de Investigaciones Biológicas. This World Wide Web Site contains published and unpublished mutations and polymorphisms in the. Gene It is mostly based on work done in the laboratories of Miguel Angel Peñalva and Santiago Rodríguez de Córdoba. This site is freely accessible and can be reproduced if proper reference is made to the database and its contributors.

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AKUdatabase | alkaptonuria.cib.csic.es Reviews

https://alkaptonuria.cib.csic.es

Homogentisate 1,2 Dioxygenase Locus (. Mutation and Polymorphism Database Home Page. CONSEJO SUPERIOR DE INVESTIGACIONES CIENTÍFICAS. Centro de Investigaciones Biológicas. This World Wide Web Site contains published and unpublished mutations and polymorphisms in the. Gene It is mostly based on work done in the laboratories of Miguel Angel Peñalva and Santiago Rodríguez de Córdoba. This site is freely accessible and can be reproduced if proper reference is made to the database and its contributors.

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alkaptonuria.cib.csic.es

1

HGOhaplotypesAKUmutations

http://www.alkaptonuria.cib.csic.es/HGOhaplotypes.htm

Haplotypes associated to the AKU mutations. Haplotypes in the general population.

2

Protocols

http://www.alkaptonuria.cib.csic.es/protocol.htm

Protocols for the analysis of. Analysis of polymorphisms at the HGO-1 (D3S4496), HGO-2 (D3S4497) and HGO-3 (D3S4556) was performed by PCR, using total human genomic DNA, as described elsewhere. In brief, amplification was performed in a total volume of 20 microliter, containing: 100 ng of genomic DNA, 5pmol of each primer (Click here. To see primer pairs), 1 u. Taq. Polymerase (Perking-Elmer Cetus), 250 micromolar each dATP, dGTP, and dTTP, 10 micromolar dCTP, 1microCi a -[. P] dCTP at 300 Ci mmol. The a...

3

The HGO gene

http://www.alkaptonuria.cib.csic.es/hgogene.htm

Gene maps to chromosome 3 (3q21-23) ( Fernandez-Can et al. (1996). It spans 54,363 bp and codes for a 1,715 n-long transcript which is split in 14 exons ranging from 35 to 360 bp (Granadino et al. (1997). Gene encodes a protein of 445 amino acids (click here. To see a diagram of the. Introns, 605 to 17,687 bp in length, contain representatives of the major classes of repetitive elements, including ALUs, LINEs, SINEs, LTRs and several simple sequence repeats (SSRs) (Click here. Rodrguez et al., 2000.

4

Alkaptonuria

http://www.alkaptonuria.cib.csic.es/alkaptonuria.htm

Alkaptonuria (AKU; McKusick n 203500. Is a rare autosomal recessive disorder of both historical and medical interest. It represents a classical example of a discrete biochemical lesion resulting from a single gene deficiency that gives rise to a degenerative disease (O'Brien et al., 1963). AKU patients are deficient for. Homogentisate 1,2 dioxygenase activity (HGO, EC 1.13.11.5. The gene responsible for AKU was located in man to 3q2 ( Pollak et al.,1993. Janocha et al.,1994. Thus, a gene encoding an HGO ...

5

Polymorphisms

http://www.alkaptonuria.cib.csic.es/Mutaciones%20y%20polymorphisms.htm

AKU presents a remarkable allelic heterogeneity. More than 40 different AKU mutations have been identified in a total series of less than 100 unrelated patients from many different countries ( Fernndez-Can et al., 1996. Gehrig et al., 1997. Beltrn-Valero de Bernab et al., 1998. Ramos et al., 1998. Higashino et al., 1998. Beltrn-Valero de Bernab et al., 1999. Beltrn-Valero de Bernab et al., 1999. Muller et al., 1999. Walter et al., 1999. Felbor et al., 1999. Porfirio et al., 2000. Zatkova et al., 2000.

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Guía de TP y Explicaciones 2016 | Blog de Química Biológica Patológica

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hgddatabase.cvtisr.sk

HGD homepage - HGD mutation database - Leiden Open Variation Database

http://hgddatabase.cvtisr.sk/variants.php?select_db=HGD&action=view_all

Homogentisate 1,2-dioxygenase (HGD). LOVD v.2.0 Build 36 [ Current LOVD status. Curator: Dr. Andrea Zatkova. View all (unique) PubMed references. In the HGD database. October 24, 2010. June 28, 2016. Submit a sequence variant. Coding DNA reference sequence. For describing sequence variants. Total number of unique DNA variants reported. Total number of individuals with variant(s). Total number of variants reported. Subscribe to updates of this gene. More data can be downloaded here:. Summary of all sequen...

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Resoluciones Cursos | Blog de Química Biológica Patológica

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Blog de Química Biológica Patológica. Cronogramas 2016: Teorías y TPs. Seminarios de Teoría 2014-2016. Clases de Teoría 2016. Guía de TP y Explicaciones 2016. Material de estudio para Parciales. Resultados de trabajos prácticos de laboratorio y aula, 2016. Técnicas Moleculares aplicadas a BC. Curso Lípidos y LP-2016. Optativo 1- Técnical Moleculares aplicadas a Bioqca Clínica-R-0103-13. Optativo 2-Lípidos lipoproteinas y dislipoproteinemias- 148-14. Deja una respuesta Cancelar respuesta. Online Journal o...

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Alumnos Regulares | Blog de Química Biológica Patológica

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Blog de Química Biológica Patológica. Cronogramas 2016: Teorías y TPs. Seminarios de Teoría 2014-2016. Clases de Teoría 2016. Guía de TP y Explicaciones 2016. Material de estudio para Parciales. Resultados de trabajos prácticos de laboratorio y aula, 2016. Técnicas Moleculares aplicadas a BC. Curso Lípidos y LP-2016. Lista de regulares QBP 2011 A-L. Lista de regulares QBP 2011 L-Z. Lista de regulares Bioq Molec 2011. 2012-Asim.Bioq.Acta 13946-1. 2012-QUIMICA BIOLOGICA PATOLOGICA Acta 13933-1. Online Mend...

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Técnicas Moleculares aplicadas a BC | Blog de Química Biológica Patológica

https://qbpatologica.wordpress.com/tecnicas-moleculares-aplicadas-a-bc

Blog de Química Biológica Patológica. Cronogramas 2016: Teorías y TPs. Seminarios de Teoría 2014-2016. Clases de Teoría 2016. Guía de TP y Explicaciones 2016. Material de estudio para Parciales. Resultados de trabajos prácticos de laboratorio y aula, 2016. Técnicas Moleculares aplicadas a BC. Curso Lípidos y LP-2016. Técnicas Moleculares aplicadas a BC. 2013-Detection of MPL Mutations by a Novel Allele-Specific PCR-Based Strategy. 2010- multiplex oligonucleotide ligation-PCR MOL-PCR. Estás comentando usa...

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Promocionales TBM | Blog de Química Biológica Patológica

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Blog de Química Biológica Patológica. Cronogramas 2016: Teorías y TPs. Seminarios de Teoría 2014-2016. Clases de Teoría 2016. Guía de TP y Explicaciones 2016. Material de estudio para Parciales. Resultados de trabajos prácticos de laboratorio y aula, 2016. Técnicas Moleculares aplicadas a BC. Curso Lípidos y LP-2016. Deja una respuesta Cancelar respuesta. Introduce aquí tu comentario. Introduce tus datos o haz clic en un icono para iniciar sesión:. La dirección no se hará pública). Trends in Cell Biology.

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Resultados Parciales 2016 | Blog de Química Biológica Patológica

https://qbpatologica.wordpress.com/resultados-parciales

Blog de Química Biológica Patológica. Cronogramas 2016: Teorías y TPs. Seminarios de Teoría 2014-2016. Clases de Teoría 2016. Guía de TP y Explicaciones 2016. Material de estudio para Parciales. Resultados de trabajos prácticos de laboratorio y aula, 2016. Técnicas Moleculares aplicadas a BC. Curso Lípidos y LP-2016. Curso Química Biológica Patológica. Ayuda para usar el programa PolyPhen-2. Banco de Genes. Secuencias. MPprimer: a program for reliable multiplex PCR primer design. Trends in Cell Biology.

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AKUdatabase

Homogentisate 1,2 Dioxygenase Locus (. Mutation and Polymorphism Database Home Page. CONSEJO SUPERIOR DE INVESTIGACIONES CIENTÍFICAS. Centro de Investigaciones Biológicas. This World Wide Web Site contains published and unpublished mutations and polymorphisms in the. Gene It is mostly based on work done in the laboratories of Miguel Angel Peñalva and Santiago Rodríguez de Córdoba. This site is freely accessible and can be reproduced if proper reference is made to the database and its contributors.

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