GJB2 235delC single allelic mutation modulates the phenotype associated with the mitochondrial A1555G mutation

Chinese Journal of Medical Genetics

Volumn 27, Issue 2, 2010, Pages 194-197

  Li, Qi ^a   Fang, Ru Ping ^a   Zhou, Hong Gen ^a   Dai, Pu ^b   Tian, Li ^a   Lin, Di ^a   Huang, Qun ^a   Song, Jian Min ^a  

^a NANJING MEDICAL UNIVERSITY   (China)

^b CHINESE PLA GENERAL HOSPITAL   (China)

Author keywords

GJB2 gene; Heterozygote; Mitochondrial DNA; Mutation analysis; Sensorineural hearing loss

Indexed keywords

CONNEXIN 26; DNA; DNA FRAGMENT; MITOCHONDRIAL DNA;

ARTICLE; CLINICAL ARTICLE; DNA EXTRACTION; GENE DELETION; GENE EXPRESSION; GENE INTERACTION; GENE MUTATION; GENE SEQUENCE; HEARING IMPAIRMENT; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; LEUKOCYTE; MITOCHONDRIAL GENE; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; PERCEPTION DEAFNESS; PHENOTYPE; POLYMERASE CHAIN REACTION; PURE TONE AUDIOMETRY; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; ALLELES; BASE SEQUENCE; CHILD; CONNEXINS; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; GENOTYPE; HEARING LOSS; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 77952002250     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.1003-9406.2010.02.017     Document Type: Article

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