A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.

Human mutation

Volumn 18, Issue 5, 2001, Pages 460-

  Lerer, I ^a   Sagi, M ^a   Ben Neriah, Z ^a   Wang, T ^a   Levi, H ^a   Abeliovich, D ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN; GJB6 PROTEIN, HUMAN;

ALLELE; ARTICLE; BIOLOGICAL MODEL; CHILD; EXON; FEMALE; FOUNDER EFFECT; GENE DELETION; GENE DOSAGE; GENE SILENCING; GENETIC POLYMORPHISM; GENETICS; HAPLOTYPE; HEARING IMPAIRMENT; HETEROZYGOTE; HUMAN; JEW; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; POLYMERASE CHAIN REACTION; RECESSIVE GENE; SOUTHERN BLOTTING;

ALLELES; BLOTTING, SOUTHERN; CHILD; CONNEXINS; DEAFNESS; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FOUNDER EFFECT; GENE DOSAGE; GENE SILENCING; GENES, RECESSIVE; HAPLOTYPES; HETEROZYGOTE; HUMANS; JEWS; MALE; MODELS, GENETIC; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; SEQUENCE DELETION;

EID: 0035513485     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1222     Document Type: Article

References (0)