Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene.

about

Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene.

Item

http://www.wikidata.org/entity/Q43765500

description

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-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

2017年學術文章

@zh-hant

name

Phenotype variability in a lar ...... ovel mutations in COL4A3 gene.

@en

Phenotype variability in a lar ...... ovel mutations in COL4A3 gene.

@nl

type

Item

label

Phenotype variability in a lar ...... ovel mutations in COL4A3 gene.

@en

Phenotype variability in a lar ...... ovel mutations in COL4A3 gene.

@nl

prefLabel

Phenotype variability in a lar ...... ovel mutations in COL4A3 gene.

@en

Phenotype variability in a lar ...... ovel mutations in COL4A3 gene.

@nl

P1476

Phenotype variability in a lar ...... ovel mutations in COL4A3 gene.

@en

P2093

A Coloma

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

C Cervera-Acedo

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

E Domínguez-Garrido

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

E Huarte-Loza

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

M Sierra-Carpio

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

P2860

Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome

Molecular cloning of alpha 5(IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locus

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study

COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome

The clinical spectrum of type IV collagen mutations

Thin basement membrane nephropathy associated with minimal change disease in a 15-year-old boy

Collagen alpha5 and alpha2(IV) chain coexpression: analysis of skin biopsies of Alport patients.

Estimating prevalence in single-gene kidney diseases progressing to renal failure.

Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene.

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

P2888

s12882-017-0735-y

P304

325

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

P31

scholarly article

P356

10.1186/S12882-017-0735-Y

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

P433

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

P478

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

P577

2017-10-31T00:00:00Z

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

P6179

1092465863

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

P698

29089023

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

P932

5664579

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