Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.

about

Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.

Item

http://www.wikidata.org/entity/Q47561548

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

Identification of a mutation i ...... link between CNNM4 and IQCB1.

@en

Identification of a mutation i ...... link between CNNM4 and IQCB1.

@nl

type

Item

label

Identification of a mutation i ...... link between CNNM4 and IQCB1.

@en

Identification of a mutation i ...... link between CNNM4 and IQCB1.

@nl

prefLabel

Identification of a mutation i ...... link between CNNM4 and IQCB1.

@en

Identification of a mutation i ...... link between CNNM4 and IQCB1.

@nl

P1476

Identification of a mutation i ...... link between CNNM4 and IQCB1.

@en

P2093

Dong Yu

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

Elias I Traboulsi

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

Lin Li

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

Qiuyun Chen

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

Quansheng Xi

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

Sisi Li

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

Xiaoyu Zhang

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

Zhenyang Jiang

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

P2860

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome

Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene

Null RPGRIP1 alleles in patients with Leber congenital amaurosis.

A novel locus for Leber congenital amaurosis maps to chromosome 6q

Exome sequencing identifies the cause of a mendelian disorder

Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration

Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta

P2888

s00438-018-1417-6

P304

699-710

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

P31

scholarly article

P356

10.1007/S00438-018-1417-6

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

P433

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

P478

293

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

P50

Qing Wang

P577

2018-01-10T00:00:00Z

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

P698

29322253

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

P921

Amish

P932

5949075

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