Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2

International Journal of Pediatric Otorhinolaryngology

Volumn 74, Issue 3, 2010, Pages 250-254

  Gravina, Luis Pablo ^a   Foncuberta, María Eugenia ^a   Prieto, María Eugenia ^a   Garrido, Jeniffer ^a   Barreiro, Cristina ^a   Chertkoff, Lilien ^a  

^a HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

Author keywords

Argentina; Connexin 26; Connexin 30; Deafness; Del(GJB6 D13S1830); Del(GJB6 D13S1854); GJB2; GJB6; IVS1+1G A

Indexed keywords

CONNEXIN 26; CONNEXIN 30; GENOMIC DNA;

ADOLESCENT; ARGENTINA; ARTICLE; CAUCASIAN; CHILD; CONTROLLED STUDY; DELETION MUTANT; DNA SEQUENCE; FEMALE; GENE DELETION; GENE FREQUENCY; GENE LOCUS; GENETIC VARIABILITY; GEOGRAPHIC DISTRIBUTION; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; NON SYNDROMIC DEAFNESS; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD; SPAIN;

ADOLESCENT; ARGENTINA; AUDIOMETRY, PURE-TONE; CHILD; CHILD, PRESCHOOL; CONNEXINS; DEAFNESS; DNA MUTATIONAL ANALYSIS; DNA, RECOMBINANT; EXONS; FEMALE; GENE DELETION; GENOME; GENOTYPE; HUMANS; INFANT; MALE; POINT MUTATION;

EID: 77149163336     PISSN: 01655876     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijporl.2009.11.014     Document Type: Article

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