Digenic inheritance in autosomal recessive non-syndromic hearing loss cases carrying GJB2 heterozygote mutations: Assessment of GJB4, GJA1, and GJC3

International Journal of Pediatric Otorhinolaryngology

Volumn 77, Issue 2, 2013, Pages 189-193

  Kooshavar, Daniz ^a,b   Tabatabaiefar, Mohammad Amin ^b,c   Farrokhi, Effat ^b   Abolhasani, Marziye ^b   Noori Daloii, Mohammad Reza ^a   Hashemzadeh Chaleshtori, Morteza ^b  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c AHVAZ JUNDISHAPUR UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Connexin; Digenic inheritance; GJA1; GJB2; GJB4; Hearing loss

Indexed keywords

ARGININE; CONNEXIN 26; CONNEXIN 29; CONNEXIN 30; CONNEXIN 43; GAP JUNCTION PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DNA SEQUENCE; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; GJA1 GENE; GJB2 GENE; GJB4 GENE; GJC3 GENE; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; IRAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

CONNEXIN 43; CONNEXINS; HEARING LOSS; HETEROZYGOTE; HUMANS; IRAN; MUTATION; NERVE TISSUE PROTEINS; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEQUENCE ANALYSIS, DNA;

EID: 84872596304     PISSN: 01655876     EISSN: 18728464     Source Type: Journal    
DOI: 10.1016/j.ijporl.2012.10.015     Document Type: Article

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