Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness

Journal of Human Genetics

Volumn 55, Issue 5, 2010, Pages 265-269

  Kokotas, Haris ^a   Grigoriadou, Maria ^a   Korres, George S ^a   Ferekidou, Elisabeth ^a   Giannoulia Karantana, Aglaia ^b   Kandiloros, Dimitrios ^b   Korres, Stavros ^b   Petersen, Michael B ^a  

^a AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^b UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

Author keywords

A1555G; Aggravating factor; Deafness; G7444A; GJB2; Mitochondrial; Modifier gene; Non syndromic

Indexed keywords

MITOCHONDRIAL DNA;

GENE; GENE EXPRESSION; GENE MUTATION; GJB2 GENE; HEARING IMPAIRMENT; HEARING LOSS; HUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; REVIEW;

CONNEXINS; DEAFNESS; DNA, MITOCHONDRIAL; FAMILY HEALTH; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION; PENETRANCE; PHENOTYPE;

EID: 77952829417     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.23     Document Type: Review

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