High-throughput screening for GJB2 mutations - Its clinical application to genetic testing in prelingual deafness screening for GJB2 mutations

Auris Nasus Larynx

Volumn 29, Issue 3, 2002, Pages 231-239

  Sugata, Akemi ^a   Fukushima, Kunihiro ^a   Sugata, Ken Ichi ^a   Fukuda, Syouichiro ^b   Kimura, Nobuhiko ^a   Gunduz, Mehmet ^a   Kasai, Norio ^a   Usami, Shinichi ^c   Smith, Richard J H ^d   Nishizaki, Kazunori ^a  

^a OKAYAMA UNIVERSITY MEDICAL SCHOOL   (Japan)

^b Okayama Kanariya Gakuen   (Japan)

^c SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d UNIVERSITY OF IOWA   (United States)

Author keywords

Connexin26; GJB2; Non syndromic hearing loss; Screening method; Single nucleotide deletion; Single nucleotide substitution

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN;

ARTICLE; CONTROLLED STUDY; EXON; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HEARING IMPAIRMENT; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; MAJOR CLINICAL STUDY; SEQUENCE ANALYSIS; CHROMOSOME DELETION; FEMALE; GENETICS; HETEROZYGOTE DETECTION; MALE; MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; REPRODUCIBILITY;

CHROMOSOME DELETION; CONNEXINS; DEAFNESS; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC SCREENING; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; INFANT; MALE; MUTATION; POLYMERASE CHAIN REACTION; REPRODUCIBILITY OF RESULTS;

EID: 0036024313     PISSN: 03858146     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0385-8146(02)00014-7     Document Type: Article

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