Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets.

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X-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female.Defective Mineralization in X-Linked Hypophosphatemia Dental Pulp Cell Cultures.

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Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets.

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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2016年學術文章

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2016年學術文章

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name

Seven novel and six de novo PH ...... with hypophosphatemic rickets.

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Seven novel and six de novo PH ...... with hypophosphatemic rickets.

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Seven novel and six de novo PH ...... with hypophosphatemic rickets.

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Seven novel and six de novo PH ...... with hypophosphatemic rickets.

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Seven novel and six de novo PH ...... with hypophosphatemic rickets.

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Seven novel and six de novo PH ...... with hypophosphatemic rickets.

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Seven novel and six de novo PH ...... with hypophosphatemic rickets.

@en

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Jie-Mei Gu

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Jin-Wei He

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Shan-Shan Li

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Wei-Jia Yu

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Wen-Zhen Fu

http://www.w3.org/2001/XMLSchema#string

Zhen-Lin Zhang

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P2860

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium

A method and server for predicting damaging missense mutations

New perspectives on the biology and treatment of X-linked hypophosphatemic rickets

Genetic evidence of serum phosphate-independent functions of FGF-23 on bone

A Runx2/miR-3960/miR-2861 regulatory feedback loop during mouse osteoblast differentiation

SIFT: Predicting amino acid changes that affect protein function

Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).

Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia.

Three novel mutations in the PHEX gene in Chinese subjects with hypophosphatemic rickets extends genotypic variability.

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scholarly article

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10.3892/IJMM.2016.2796

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5117772

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Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets.

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P2860

P2860

Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets.

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