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Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.

X-linked hypophosphatemic rickets (HYP) is a dominant disorder characterized by renal phosphate wasting and abnormal vitamin D metabolism. PEX, the gene that is defective in HYP and is located on Xp22.1, is homologous to members of the neutral endopeptidase family. However, the complete coding seque...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Holm, I A, Huang, X, Kunkel, L M
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1997
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1712471/
https://ncbi.nlm.nih.gov/pubmed/9106524
Tagiau: Ychwanegu Tag
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