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Journal article

Mutational analysis of PHEX gene in X-linked hypophosphatemia.

Abstract:

Hypophosphatemic rickets is commonly an X-linked dominant disorder (XLH or HYP) associated with a renal tubular defect in phosphate transport and bone deformities. The XLH gene, referred to as PHEX, or formerly as PEX (phosphate regulating gene with homologies to endopeptidases on the X-chromosome), encodes a 749-amino acid protein that putatively consists of an intracellular, transmembrane, and extracellular domain. PHEX mutations have been observed in XLH patients, and we have undertaken st...

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Publication status:
Published

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Publisher copy:
10.1210/jc.83.10.3615

Authors


Christie, PT More by this author
Wooding, C More by this author
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Journal:
The Journal of clinical endocrinology and metabolism
Volume:
83
Issue:
10
Pages:
3615-3623
Publication date:
1998-10-05
DOI:
EISSN:
1945-7197
ISSN:
0021-972X
URN:
uuid:e1fbe819-2c4b-40a0-93ac-ef245a6c6692
Source identifiers:
27372
Local pid:
pubs:27372

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