Genetic testing for hereditary hearing loss: Connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA)

Human Mutation

Volumn 16, Issue 6, 2000, Pages 502-508

  Prasad, S ^a   Cucci, R A ^a   Green, G E ^a   Smith, R J H ^a,b  

^a UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^b UNIVERSITY OF IOWA HEALTH CARE   (United States)

Author keywords

ARNSHL; Autosomal recessive non syndromic hearing loss; Connexin 26; DFNB1; GJB2; Mutation screening

Indexed keywords

CONNEXIN 26;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; EXON; GENETIC ANALYSIS; GENETIC COUNSELING; HEARING LOSS; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ALLELES; AMINO ACID SUBSTITUTION; ARGININE; CONNEXINS; CYSTEINE; DEAFNESS; GENETIC SCREENING; HEARING LOSS, SENSORINEURAL; HUMANS; MUTATION; SEQUENCE DELETION; VARIATION (GENETICS);

EID: 0034536288     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(200012)16:6<502::AID-HUMU7>3.0.CO;2-4     Document Type: Article

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