A simple PCR test to detect the common 35delG mutation in the connexin 26 gene

Molecular Diagnosis

Volumn 5, Issue 1, 2000, Pages 75-78

  Dabi, Hans Henrik M ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

35delG; 35delG mutation; Connexin 26; Deafness; GJB2; PCR test

Indexed keywords

GAP JUNCTION PROTEIN;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; COHORT ANALYSIS; ETHNOLOGY; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HEARING IMPAIRMENT; HUMAN; POLYMERASE CHAIN REACTION; RELIABILITY;

EID: 0034116117     PISSN: 10848592     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1084-8592(00)00014-X     Document Type: Article

References (3)

1. Van Camp G, Willems PJ, Smith RJ: Nonsyndromic hearing impairment: Unparalleled heterogeneity. Am J Hum Genet 1997;60:758-764
2. Kelsell DP, Dunlop J, Stevens HP, et al.: Connexin 26 mutations in hereditary non-syndromic deafness. Nature 1997;387:80-83
3. Wilcox SA, Osborn AH, Allen-Powell DR, Maw MA, Dahl HH, Gardner RJ: Connexin-26 deafness in several interconnected families. J Med Genet 1999;36:383-385