GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent

International Journal of Pediatric Otorhinolaryngology

Volumn 74, Issue 6, 2010, Pages 611-618

  Shan, Jidong ^a   Chobot Rodd, Janie ^a   Castellanos, Raquel ^a   Babcock, Melanie ^a   Shanske, Alan ^a   Parikh, Sanjay R ^a   Morrow, Bernice E ^a   Samanich, Joy ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

Admixture; Connexin 26; Deafness; GJB2; Mutations

Indexed keywords

CONNEXIN 26;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CARIBBEAN HISPANIC; DISEASE SEVERITY; DOMINANT INHERITANCE; ETHNICITY; EXON; FAMILY; FOUNDER DELETION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; HEARING IMPAIRMENT; HEARING LOSS; HETEROZYGOSITY; HISPANIC; HUMAN; MAJOR CLINICAL STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NEGRO; NON SYNDROMIC HEARING IMPAIRMENT; PEDIGREE; PENETRANCE; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRIORITY JOURNAL; RELATIVE; SPLICE SITE MUTATION;

AFRICAN CONTINENTAL ANCESTRY GROUP; CARIBBEAN REGION; CATCHMENT AREA (HEALTH); CHILD; CONNEXINS; DNA MUTATIONAL ANALYSIS; ETHNIC GROUPS; GENE DELETION; GENETIC TESTING; GENOTYPE; HEARING LOSS, SENSORINEURAL; HISPANIC AMERICANS; HUMANS; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; PREVALENCE; UNITED STATES;

EID: 77952742813     PISSN: 01655876     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijporl.2010.03.004     Document Type: Article

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