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Article

[Molecular aspects of familial hypophosphatemic rickets].

Medycyna wieku rozwojowego - 1 Jan 2000

Sułek A

Abstract excerpt

Familial hypophosphataemic rickets (XLH) is an X-linked dominant disorder resulting in hypophosphataemia, abnormal regulation of 25-hydroxy vitamin D metabolism, elevated activity of alkaline phosphatase, bone deformities and short stature. In 1995-97 the sequence of PEX gene responsible for the disease was established. The PEX gene spreads 24.3 kb and includes 22 small exons coding a protein belonging to a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to PHEX Phosphate Regulating Neutral Endopeptidase

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Identifiers

PMID: 10910642

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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