High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients.

about

High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients.

Item

http://www.wikidata.org/entity/Q40726154

description

2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年学术文章

@wuu

2015年学术文章

@zh-cn

2015年学术文章

@zh-hans

2015年学术文章

@zh-my

2015年学术文章

@zh-sg

2015年學術文章

@yue

2015年學術文章

@zh

2015年學術文章

@zh-hant

name

High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients.

@en

type

Item

label

High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients.

@en

prefLabel

High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients.

@en

P1476

High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients

@en

P2093

Changxi Wang

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

Haiyan Wang

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

Hongrong Lin

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

Huajuan Tong

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

Jun Li

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

Ting Liu

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

Zhihui Yue

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

P2860

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping

Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree.

Nephronophthisis

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis

Targeting of Nphp3 to the primary cilia is controlled by an N-terminal myristoylation site and coiled-coil domains

Nephronophthisis: disease mechanisms of a ciliopathy.

Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies

P304

209-216

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

P31

scholarly article

P356

10.1111/NEP.12563

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

P433

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

P478

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

P50

Liangzhong Sun

P577

2016-03-01T00:00:00Z

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

P698

26184788

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