Prevalence of p.V37I Variant of GJB2 in Mild or Moderate Hearing Loss in a Pediatric Population and the Interpretation of Its Pathogenicity

PLoS ONE

Volumn 8, Issue 4, 2013, Pages

  Kim, So Young ^a   Park, Gibeom ^b   Han, Kyu Hee ^a   Kim, Ahreum ^a   Koo, Ja Won ^b,c   Chang, Sun O ^a,b   Oh, Seung Ha ^a,b   Park, Woong Yang ^d,e   Choi, Byung Yoon ^b,c  

^a Seoul National University Hospital   (South Korea)

^b Seoul National University College of Medicine   (South Korea)

^c Seoul National University Bundang Hospital   (South Korea)

^d Sungkyunkwan University School of Medicine   (South Korea)

^e Samsung Medical Center   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN;

ADOLESCENT; ALLELE; ARTICLE; ASIAN; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CONNEXIN 26 GENE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE DELETION; GENE FREQUENCY; GENETIC LOAD; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; KOREAN; MAJOR CLINICAL STUDY; MALE; MUTATION RATE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PERCEPTION DEAFNESS; PRESCHOOL CHILD; SEQUENCE ANALYSIS; GENETICS; HEARING LOSS, SENSORINEURAL; PEDIGREE;

ADOLESCENT; BASE SEQUENCE; CHILD; CONNEXINS; FEMALE; GENE FREQUENCY; GENETIC VARIATION; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; PEDIGREE;

EID: 84876743532     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0061592     Document Type: Article

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