Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.

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Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3.Genetic Causes of Rickets.

P2860

Q52673977-0338B7C2-7E02-4726-A401-D0E9660E5D38 Q52687353-A73A4D74-A270-4F71-BDAE-3EB2BAFB3CD6

P2860

Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.

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http://www.wikidata.org/entity/Q48312233

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2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年学术文章

@wuu

2017年学术文章

@zh

2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh-hant

name

Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.

@en

Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.

@nl

type

Item

label

Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.

@en

Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.

@nl

prefLabel

Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.

@en

Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.

@nl

P1476

Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.

@en

P2093

Anwar F Alenezi

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

Ayla Guven

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

Brian F Meyer

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

Durmuş Dogan

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Essa Y Baitei

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Huda A BinEssa

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

Minjing Zou

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

Namik Kaya

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

Roua A Al-Rijjal

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

Suna Hancili

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P2860

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis

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

Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5)

Skeletal secretion of FGF-23 regulates phosphate and vitamin D metabolism

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

Familial hypophosphatemic rickets caused by a large deletion in PHEX gene

Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis)

The Phyre2 web portal for protein modeling, prediction and analysis

Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets

P304

103-112

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P31

scholarly article

P356

10.1111/CEN.13347

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P433

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

P478

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

P50

Yufei Shi

P577

2017-04-06T00:00:00Z

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P698

28383812

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Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.

about

P2860

P2860

Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698