
phexdb.mcgill.ca
PHEXdb Search Engine SitePHEXdb is a database for mutations in the PHEX gene causing X-linked hypophosphatemia.
http://phexdb.mcgill.ca/
PHEXdb is a database for mutations in the PHEX gene causing X-linked hypophosphatemia.
http://phexdb.mcgill.ca/
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PHEXdb Search Engine Site | phexdb.mcgill.ca Reviews
https://phexdb.mcgill.ca
PHEXdb is a database for mutations in the PHEX gene causing X-linked hypophosphatemia.
PHEX Recent Literature
http://www.phexdb.mcgill.ca/phexdb_lit.html
Liu S, Rowe PS, Vierthaler L, Zhou J, Quarles LD. Phosphorylated acidic serine-aspartate-rich MEPE-associated motif peptide from matrix extracellular phosphoglycoprotein inhibits phosphate regulating gene with homologies to endopeptidases on the X-chromosome enzyme activity. J Endocrinol. 192(1):261-7. 2007 Jan. PubMed ID:. De Menezes Filho H, de Castro LC, Damiani D. Hypophosphatemic rickets and osteomalacia. Arq Bras Endocrinol Metabol. 50(4):802-13. 2006 Aug. PubMed ID:. Liu S, Zhou J, Tang W, Jiang X...
Mutation Submission Screen
http://www.phexdb.mcgill.ca/phexdb_mut_submit.html
Please use this form to submit data to the PHEX database (. For more information please contact us by email. Note: Do not Include ' in any of the fields). Mutation Name [ex. 58C T]. Other Name [ex. R20X]. Codon Change [ex. Cys to Arg]. Restriction Site(s) or ACRS (create or delete (-) [ex. -AvaI]. Quality Control: Indicate technique used to identify mutation as well as the number of control DNAs screened. Dr H S. Tenenhouse. 1999 Debelle Data Group.
PHEXdb Data Retrieval
http://www.phexdb.mcgill.ca/phexdb_mut1.html
PHEXdb Mutation Data Retrieval. Please choose search field:. Enter text or value:. For a nucleotide replacement, eg. c.931.C T. The notation consists of c. Indicates cDNA) followed by a nucleotide number (preceded and followed by a period), then the original nucleotide and finally the mutant nucleotide. For a deletion or insertion, eg. c.985.insC. The notation consists of c. Followed by a nucleotide number (preceded and followed by a period), then ins. The notation consists of the normal. Articles contai...
PHEXdb Data Retrieval
http://www.phexdb.mcgill.ca/phexdb_ref1.html
PHEXdb Reference Data Retrieval. Please choose search field:. Enter text or value:. Consists of the first author's name. Name of journal where mutation has been published, if available. Consists of the title of article, if available. Dr H S. Tenenhouse. 1999 Debelle Data Group.
PHEXdb: PHEX cDNA Sequence
http://www.phexdb.mcgill.ca/phexdb_seq.html
PHEX GenBank accession number:. NEP GenBank accession number:. ECE-1 GenBank accession number:. Dr H S. Tenenhouse. 1999 Debelle Data Group.
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XLH :: Links
http://xlhnetwork.org/index.php/technical-information/links-technical-information
Other XLH Related Sites. Database of PHEX mutations. Yale Center for X-Linked Hypophosphatemia. Your Genes, Your Choices Exploring the Issues Raised by Genetic Research. Online Mendelian Inheritance in Man (OMIM) page on XLH. Bone Biology for Kids. EMedicine page on Hypophosphatemic Rickets. The Merck Manual page on Hypophosphatemic Rckets. Rare Disorder Resource Websites. Canadian Organization for Rare Disorders (CORD). National Organization for Rare Disorders (NORD). NIH Office of Rare Diseases. We com...
XLH :: Frequently Asked Questions
http://www.xlhnetwork.org/index.php/what-is-xlh/faq
QUESTION: What is XLH? X-chromosome Linked Hypophosphatemia is a genetic metabolic disorder that usually results in bowed or bent legs in growing children. In XLH, the body's mechanisms to make and maintain bones and teeth do not work correctly. One of the things needed for good bone growth is the mineral phosphorus. Q: Is there a single mutation responsible for XLH? Q: Does XLH affect everyone the same? Q How do people get XLH? Therefore, if a man has XLH. Has a 50-50 chance of inheriting XLH, depending...
XLH :: Information on XLH
http://www.xlhnetwork.org/index.php/technical-information/information-on-xlh
A number of sources keep updated information on XLH:. Online Mendelian Inheritance in Man Database. In addition, The XLH Network keeps in contact with leaders in research and treatment of X-Linked Hypophosphatemia. You can contact us for information on how to contact them. 2011, The XLH Network Inc. Is available. Please read our full disclaimer. Last modified Mar 28, 2016. Tweets by @XLH Network. Follow us on facebook. Follow us on twitter. Visit us on YouTube. We comply with the HONcode standard.
Team profile - Excalibur Bioconsulting
http://www.excaliburbioconsulting.com/team-profile.html
Founder and Principal Consultant: Lisa-Marie Sturla BSc., PhD. Experienced translational scientist in oncology with over 15 years of patient centered research experience identifying diagnostic and prognostic biomarkers in tumor tissue and investigating mechanisms of tumorigenesis, and therapeutic resistance. PhD Cancer Research UK Clinical Centre, School of Research Medicine, University of Leeds, UK. Postdoctoral Training Children's Hospital/Harvard Medical School, Boston, USA. Experience in the identifi...
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PHEXdb Search Engine Site
Mutation Search Engine Site! This site is dedicated to the distribution of information about nucleotide variation found in the PHEX gene, the majority of which are found in patients with X-linked hypophosphatemia. For help or suggestions, please. And we will do our best to accomodate your needs. This part of the site allows the user to retrieve specific information. On mutations from the. Data Currently the following search. Information concerning type of mutation and the specific changes to the codon.
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