Compound heterozygosity for dominant and recessive GJB2 mutations: effect on phenotype and review of the literature

Compound heterozygosity for dominant and recessive GJB2 mutations: effect on phenotype and review of the literature

Item
http://www.wikidata.org/entity/Q28297917
Characterization of spectrum, de novo rate and genotype-phenotype correlation of dominant GJB2 mutations in Chinese hansThe Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese IndividualsA novel dominant GJB2 (DFNA3) mutation in a Chinese family.Hearing impairment and language delay in infants: Diagnostics and genetics.Congenital deafness is associated with specific somatosensory deficits in adolescents.A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafnessThe importance of phase information for human genomics.Whole-genome haplotyping using long reads and statistical methods.Phenotypes of two Dutch DFNA3 families with mutations in GJB2.Identification of a p.R143Q dominant mutation in the gap junction beta-2 gene in three Chinese patients with different hearing phenotypes.Rare compound heterozygosity involving dominant and recessive mutations of GJB2 gene in an assortative mating hearing impaired Indian family.Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily.Novel connexin 30 and connexin 26 mutational spectrum in patients with progressive sensorineural hearing loss.Polymorphism of the 86th amino acid in CX26 protein and hereditary deafness.Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma
P2860

Compound heterozygosity for dominant and recessive GJB2 mutations: effect on phenotype and review of the literature

Item
http://www.wikidata.org/entity/Q28297917
description
2007 nî lūn-bûn
@nan
2007 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Compound heterozygosity for do ...... e and review of the literature
@ast
Compound heterozygosity for do ...... e and review of the literature
@en
Compound heterozygosity for do ...... e and review of the literature
@nl
type
label
Compound heterozygosity for do ...... e and review of the literature
@ast
Compound heterozygosity for do ...... e and review of the literature
@en
Compound heterozygosity for do ...... e and review of the literature
@nl
prefLabel
Compound heterozygosity for do ...... e and review of the literature
@ast
Compound heterozygosity for do ...... e and review of the literature
@en
Compound heterozygosity for do ...... e and review of the literature
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P356
P1433
P1476
Compound heterozygosity for do ...... e and review of the literature
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P2093
P304
P31
P356
P407
P433
P478
P577
P698