Evaluation of the pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1832, Issue 1, 2013, Pages 285-291

  Oh, Se Kyung ^a   Choi, Soo Young ^b   Yu, Song Hee ^a   Lee, Kyu Yup ^c   Hong, Jeong Hwa ^d   Hur, Sung Won ^d   Kim, Sang Jeong ^d   Jeon, Chang Jin ^a   Kim, Un Kyung ^a  

^a Kyungpook National University   (South Korea)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c Kyungpook National University School of Medicine   (South Korea)

^d Seoul National University   (South Korea)

Author keywords

Connexin; Functional study; Gap junction; Hearing loss; Variant

Indexed keywords

CONNEXIN 30; CONNEXIN 31;

ARTICLE; CELL COMMUNICATION; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; KOREA; MAJOR CLINICAL STUDY; PATHOGENICITY; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

CALCIUM; CONNEXINS; GENETIC VARIATION; HEARING LOSS, SENSORINEURAL; HUMANS; MUTATION, MISSENSE;

EID: 84872420301     PISSN: 09254439     EISSN: 1879260X     Source Type: Journal    
DOI: 10.1016/j.bbadis.2012.05.009     Document Type: Article

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