Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31
about
BiP and its nucleotide exchange factors Grp170 and Sil1: mechanisms of action and biological functionsMolecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.SIL1, a causative cochaperone gene of Marinesco-Söjgren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex
P2860
Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 22 May 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31
@en
Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31.
@nl
type
label
Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31
@en
Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31.
@nl
prefLabel
Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31
@en
Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31.
@nl
P2093
P2860
P1433
P1476
Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31
@en
P2093
Haiba Kaul
J Fielding Hejtmancik
Laleh Amiri-Kordestani
S Amer Riazuddin
Sheikh Riazuddin
Tariq Butt
Xiaodong Jiao
P2860
P304
P577
2009-05-22T00:00:00Z