High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss

American Journal of Medical Genetics

Volumn 137 A, Issue 3, 2005, Pages 255-258

  Álvarez, Araceli ^a   Del Castillo, Ignacio ^a   Villamar, Manuela ^a   Aguirre, Luis A ^a   González Neira, Anna ^b   López Nevot, Alicia ^c   Moreno Pelayo, Miguel A ^a   Moreno, Felipe ^a  

^a HOSPITAL RAMÓN Y CAJAL   (Spain)

^b UNIVERSITAT POMPEU FABRA   (Spain)

^c HOSPITAL UNIVERSITARIO VIRGEN DE LAS NIEVES   (Spain)

Author keywords

Connexin 26; DFNB1; Genetic epidemiology; GJB2; Gypsies; Hearing impairment

Indexed keywords

CONNEXIN 26;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS; CLINICAL ARTICLE; CONTROLLED STUDY; DFNB1 GENE; ETHNIC GROUP; FOUNDER EFFECT; GENE; GENE LOCUS; GENE MUTATION; GENETIC COUNSELING; GENETIC EPIDEMIOLOGY; GENETIC SCREENING; GIPSY; GJB2 GENE; HAPLOTYPE; HEARING LOSS; HUMAN; MICROSATELLITE MARKER; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; SPAIN; W24X GENE;

CHROMOSOMES, HUMAN, PAIR 13; CODON, NONSENSE; CONNEXINS; FAMILY HEALTH; FEMALE; GENE FREQUENCY; GENES, RECESSIVE; GENOTYPE; GYPSIES; HAPLOTYPES; HEARING LOSS; HUMANS; MALE; MICROSATELLITE REPEATS; MUTATION; PREVALENCE; SPAIN; SYNDROME;

EID: 24344462548     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30884     Document Type: Article

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