Genetic analysis of the connexin-26 M34T variant: Identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss

Journal of Medical Genetics

Volumn 38, Issue 1, 2001, Pages 20-25

  Houseman, M J ^a   Ellis, L A ^a   Pagnamenta, A ^b   Di, W L ^c   Rickard, S ^b   Osborn, A H ^d   Dahl, H H M ^d   Taylor, G R ^a   Bitner Glindzicz, M ^d   Reardon, W ^e   Mueller, R F ^a   Kelsell, D P ^c  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^d ROYAL CHILDREN'S HOSPITAL   (Australia)

^e OUR LADY S CHILDREN S HOSPITAL   (Ireland)

Author keywords

Connexin 26; GJB2; Hearing loss; M34T

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN; PROTEIN GJB2; PROTEIN M34T; UNCLASSIFIED DRUG;

ALLELISM; ARTICLE; CHROMOSOME 13Q; CONTROLLED STUDY; GENE LOCUS; GENE SEGREGATION; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE; HEARING IMPAIRMENT; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PREVALENCE; PRIORITY JOURNAL;

EID: 0035138369     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.38.1.20     Document Type: Article

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