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Journal article

X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene.

Abstract:

X-linked hypophosphatemia is commonly caused by mutations of the coding region of PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome). However, such PHEX mutations are not detected in approximately one third of X-linked hypophosphatemia patients who may harbor defects in the noncoding or intronic regions. We have therefore investigated 11 unrelated X-linked hypophosphatemia patients in whom coding region mutations had been excluded, for intronic mutations th...

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Publication status:
Published

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Publisher copy:
10.1210/jc.86.8.3840

Authors


Christie, PT More by this author
Harding, B More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
Journal:
The Journal of clinical endocrinology and metabolism
Volume:
86
Issue:
8
Pages:
3840-3844
Publication date:
2001-08-05
DOI:
EISSN:
1945-7197
ISSN:
0021-972X
URN:
uuid:b2af7073-b055-4f10-b8d1-169147553d9d
Source identifiers:
17329
Local pid:
pubs:17329

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