Pathogenetic role of the deafness-related M34T mutation of Cx26

Human Molecular Genetics

Volumn 15, Issue 17, 2006, Pages 2569-2587

  Bicego, Massimiliano ^a   Beltramello, Martina ^b   Melchionda, Salvatore ^c   Carella, Massimo ^c   Piazza, Valeria ^b   Zelante, Leopoldo ^c   Bukauskas, Feliksas F ^d   Arslan, Edoardo ^e   Cama, Elona ^e   Pantano, Sergio ^b,e   Bruzzone, Roberto ^f   D'Andrea, Paola ^a   Mammano, Fabio ^b,e  

^a UNIVERSITY OF TRIESTE   (Italy)

^b Fondazione per la Ricerca Biomedica Avanzata   (Italy)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^d ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^e UNIVERSITY OF PADOVA   (Italy)

^f INSTITUT PASTEUR   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM ION; CONNEXIN 26; LUCIFER YELLOW; METHIONINE; THREONINE;

ADOLESCENT; ADULT; AGED; ARTICLE; AUDIOLOGY; CALCIUM CELL LEVEL; CALCIUM SIGNALING; CELL INTERACTION; CELL MEMBRANE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DIFFUSION; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC TRANSFECTION; HEARING IMPAIRMENT; HELA CELL; HETEROZYGOTE; HUMAN; MOLECULAR WEIGHT; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN SYNTHESIS; PROTEIN TARGETING; WILD TYPE;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; AUDIOLOGY; CALCIUM SIGNALING; CHILD; CHILD, PRESCHOOL; COLORING AGENTS; CONNEXINS; DEAFNESS; FEMALE; FOLLOW-UP STUDIES; GENETIC PREDISPOSITION TO DISEASE; HELA CELLS; HUMANS; ION CHANNEL GATING; MALE; MIDDLE AGED; PEDIGREE; POINT MUTATION; PROTEIN STRUCTURE, TERTIARY; STRUCTURE-ACTIVITY RELATIONSHIP; TRANSFECTION;

EID: 33747880802     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddl184     Document Type: Article

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