Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.

about

Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.

Item

http://www.wikidata.org/entity/Q55350639

description

2018 nî lūn-bûn

@nan

2018年の論文

@ja

2018年学术文章

@wuu

2018年学术文章

@zh

2018年学术文章

@zh-cn

2018年学术文章

@zh-hans

2018年学术文章

@zh-my

2018年学术文章

@zh-sg

2018年學術文章

@yue

2018年學術文章

@zh-hant

name

Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.

@en

Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.

@nl

type

Item

label

Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.

@en

Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.

@nl

prefLabel

Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.

@en

Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.

@nl

P1476

Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations

@en

P2093

Amy Fearn

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

Andreas Werner

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

Carsten A Wagner

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

Eva M Pastor-Arroyo

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

Friedhelm Hildebrandt

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

Jan Halbritter

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

Nati Hernando

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

Noel Edwards

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

Soline Bourgeois

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

Velibor Tasic

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

P2860

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities

Expression cloning and radiotracer uptakes in Xenopus laevis oocytes.

A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.

Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.

Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis

Structural fold and binding sites of the human Na⁺-phosphate cotransporter NaPi-II

FGF23-αKlotho as a paradigm for a kidney-bone network.

Progress in Understanding the Genetics of Calcium-Containing Nephrolithiasis.

P304

e13715

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

P31

scholarly article

case report

P356

10.14814/PHY2.13715

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

P433

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

P478

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

P50

John A. Sayer

Sarah J Rice

Benjamin Allison

P577

2018-06-01T00:00:00Z

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

P698

29924459

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

P921

pathophysiology

P932

6010730

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