A novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family

Brazilian Journal of Medical and Biological Research

Volumn 42, Issue 2, 2009, Pages 168-171

  Batissoco, A C ^a   Auricchio, M T B M ^a   Kimura, L ^a   Tabith Junior, A ^b   Mingroni Netto, R C ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b PONTIFÍCIA UNIVERSIDADE CATÓLICA DE CAMPINAS   (Brazil)

Author keywords

c.227C>T; Connexin 26; GJB2 gene; Hearing impairment; p.L76P

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN; GLYCINE; LEUCINE; MEMBRANE PROTEIN; PROLINE;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BRAZIL; CASE REPORT; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENETIC CONSERVATION; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; MOLECULAR EVOLUTION; MUTATIONAL ANALYSIS; POINT MUTATION; PROTEIN DOMAIN; PROTEIN PROTEIN INTERACTION; RECESSIVE INHERITANCE; WILD TYPE;

EID: 65549168555     PISSN: 0100879X     EISSN: 1414431X     Source Type: Journal    
DOI: 10.1590/S0100-879X2009000200004     Document Type: Article

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