Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: Further confirmation of pathogenicity and haplotype analysis in Asian populations

American Journal of Medical Genetics, Part A

Volumn 161, Issue 9, 2013, Pages 2148-2157

  Gallant, Emily ^a   Francey, Lauren ^a   Tsai, Ellen A ^b   Berman, Micah ^a,c   Zhao, Yaru ^d   Fetting, Heather ^a   Kaur, Maninder ^a   Deardorff, Matthew A ^a,c   Wilkens, Alisha ^a   Clark, Dinah ^a   Hakonarson, Hakon ^a,c   Rehm, Heidi L ^e   Krantz, Ian D ^a,c  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d CHINA MEDICAL UNIVERSITY   (China)

^e LABORATORY FOR MOLECULAR MEDICINE   (United States)

Author keywords

China; GJB2; Haplotype; Hearing impairment; V37I

Indexed keywords

CONNEXIN 26;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CAUCASIAN; CHILD; CHINESE; CHROMOSOME 13Q; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE FREQUENCY; GENE LOCUS; GJB2 GENE; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; JAPANESE; MALE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PATHOGENICITY; PERCEPTION DEAFNESS; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

CHINA; GJB2; HAPLOTYPE; HEARING IMPAIRMENT; V37I;

ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CODON; CONNEXINS; DNA MUTATIONAL ANALYSIS; FEMALE; HAPLOTYPES; HEARING LOSS, SENSORINEURAL; HOMOZYGOTE; HUMANS; INFANT; LINKAGE DISEQUILIBRIUM; MALE; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84881659773     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36042     Document Type: Article

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