GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease.
about
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4DAnalysis of the ABCA4 genomic locus in Stargardt disease.Genetic and clinical analysis of ABCA4-associated disease in African American patients.Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyAlu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia.How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes.Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac deathExome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems.A Review of X-linked Charcot-Marie-Tooth Disease.Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.Connexin 32 is involved in mitosis.
P2860
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P2860
GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease.
description
2010 nî lūn-bûn
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2010 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
GJB1/Connexin 32 whole gene de ...... ed Charcot-Marie-Tooth disease
@nl
GJB1/Connexin 32 whole gene de ...... d Charcot-Marie-Tooth disease.
@ast
GJB1/Connexin 32 whole gene de ...... d Charcot-Marie-Tooth disease.
@en
type
label
GJB1/Connexin 32 whole gene de ...... ed Charcot-Marie-Tooth disease
@nl
GJB1/Connexin 32 whole gene de ...... d Charcot-Marie-Tooth disease.
@ast
GJB1/Connexin 32 whole gene de ...... d Charcot-Marie-Tooth disease.
@en
prefLabel
GJB1/Connexin 32 whole gene de ...... ed Charcot-Marie-Tooth disease
@nl
GJB1/Connexin 32 whole gene de ...... d Charcot-Marie-Tooth disease.
@ast
GJB1/Connexin 32 whole gene de ...... d Charcot-Marie-Tooth disease.
@en
P2093
P2860
P3181
P1433
P1476
GJB1/Connexin 32 whole gene de ...... d Charcot-Marie-Tooth disease.
@en
P2093
Charles F Towne
James R Lupski
Sat Dev Batish
P2860
P2888
P304
P3181
P356
10.1007/S10048-010-0247-4
P407
P577
2010-06-09T00:00:00Z