Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness

Human Molecular Genetics

Volumn 10, Issue 25, 2001, Pages 2945-2951

  Liu, Xue Zhong ^a,b   Xia, Xia Juan ^a   Adams, Joe ^c   Chen, Zheng Yi ^c,d   Welch, Katherine O ^e   Tekin, Mustafa ^a   Ouyang, Xiao Mei ^b   Kristiansen, Arther ^c   Pandya, Arti ^a   Balkany, Thomas ^b   Arnos, Kathleen S ^c   Nance, Walter E ^a  

^a VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e GALLAUDET UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; COMPLEMENTARY DNA; CONNEXIN 26; CONNEXIN 32; CONNEXIN 43; GAP JUNCTION PROTEIN; LEUCINE; PHENYLALANINE; POTASSIUM; VALINE;

AMINO ACID SUBSTITUTION; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; COCHLEA; CODON; CONTROLLED STUDY; ENDOLYMPH; EPITHELIUM CELL; FETUS; GENE EXPRESSION; GENE MUTATION; GENETIC CONSERVATION; HEARING; HEARING LOSS; HOMOZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MOUSE; NEGRO; NONHUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ANIMALIA;

EID: 0035663441     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.25.2945     Document Type: Article

References (24)

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