FBN3 gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome.

about

FBN3 gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome.

Item

http://www.wikidata.org/entity/Q47160182

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

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

FBN3 gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome.

@en

FBN3 gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome.

@nl

type

Item

label

FBN3 gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome.

@en

FBN3 gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome.

@nl

prefLabel

FBN3 gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome.

@en

FBN3 gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome.

@nl

P1476

FBN3 gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome.

@en

P2093

Abir Garraoui

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

Chongyi Jiang

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

Fen He

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

Huaizhou Wang

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

Jianguo Zhang

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

Lanlan Dai

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

Liuzhi Zeng

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

Mingying Lai

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

Ning Fan

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

Xuyang Liu

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

P2860

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

The BBSome controls IFT assembly and turnaround in cilia.

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome

Database resources of the National Center for Biotechnology

Fibrillins in adult human ovary and polycystic ovary syndrome: is fibrillin-3 affected in PCOS?

Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues.

A variant in the fibrillin-3 gene is associated with TGF-β and inhibin B levels in women with polycystic ovary syndrome.

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes.

The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome.

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

P304

86718-86725

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

P31

scholarly article

P356

10.18632/ONCOTARGET.21415

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

P407

English

P433

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

P478

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

P50

Huanming Yang

P577

2017-09-30T00:00:00Z

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

P698

29156830

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

P932

5689720

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