Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.

Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.

Item
http://www.wikidata.org/entity/Q34265543
Congenital cataracts-facial dysmorphism-neuropathyADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiencyThe gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperoneAutosomal recessive cerebellar ataxias.Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review.Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31SIL1, a causative cochaperone gene of Marinesco-Söjgren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortexMarinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5' Untranslated Region.Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome.Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family.Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome.Marinesco-Sjögren syndrome in a male with mild dysmorphism.SILencing misbehaving proteins
P2860

Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.

Item
http://www.wikidata.org/entity/Q34265543
description
2003 nî lūn-bûn
@nan
2003 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.
@ast
Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.
@en
Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.
@nl
type
label
Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.
@ast
Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.
@en
Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.
@nl
prefLabel
Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.
@ast
Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.
@en
Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698