A novel missense mutation in the Connexin30 causes nonsyndromic hearing loss

PLoS ONE

Volumn 6, Issue 6, 2011, Pages

  Wang, Wen Hung ^a   Liu, Yu Fan ^b,c   Su, Ching Chyuan ^d   Su, Mao Chang ^b,c   Li, Shuan Yow ^b,c   Yang, Jiann Jou ^b,c  

^a CHANG GUNG UNIVERSITY COLLEGE OF MEDICINE   (Taiwan)

^b CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

^c CHUNG SHAN MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^d TIAN SHENG MEMORIAL HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; CONNEXIN 30; GAP JUNCTION PROTEIN; GJB6 PROTEIN, HUMAN; MUTANT PROTEIN;

AMINO ACID SEQUENCE; ARTICLE; CELL MEMBRANE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; GAP JUNCTION; GOLGI COMPLEX; HEARING LOSS; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYDROPHOBICITY; MISSENSE MUTATION; MOLECULAR CLONING; MOLECULAR INTERACTION; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; BIOLOGY; CHEMICAL STRUCTURE; CHEMISTRY; GENETICS; HELA CELL; IMMUNOHISTOCHEMISTRY; METABOLISM; MOLECULAR GENETICS; PERCEPTION DEAFNESS; PROTEIN TERTIARY STRUCTURE; SEQUENCE ALIGNMENT;

AMINO ACID SEQUENCE; COMPUTATIONAL BIOLOGY; CONNEXINS; HEARING LOSS, SENSORINEURAL; HELA CELLS; HUMANS; IMMUNOHISTOCHEMISTRY; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION, MISSENSE; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ALIGNMENT;

EID: 79959601946     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0021473     Document Type: Article

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