Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss

Genetic Testing

Volumn 11, Issue 4, 2007, Pages 347-352

  Utrera, René ^a   Ridaura, Vanessa ^a   Rodríguez, Yuryanni ^a   Rojas, Maria J ^a   Mago, Leomig ^a,d   Angeli, Simón ^b   Henríquez, Oswaldo ^c  

^a UNIVERSIDAD SIMÓN BOLÍVAR   (Venezuela)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^c Hospital San Juan de Dios Caracas   (Venezuela)

^d UNIVERSIDAD DE ORIENTE   (Venezuela)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; DNA; GAP JUNCTION PROTEIN;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS; CHILD; CHILDHOOD DISEASE; CHROMOSOME 13; CLINICAL ARTICLE; DFNB1 GENE; ETHNIC GROUP; EVALUATION; GENE; GENE DELETION; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; GJB2 GENE; GJB6 GENE; HEARING IMPAIRMENT; HEARING LOSS; HETEROZYGOTE; HUMAN; MOLECULAR BIOLOGY; MUTATOR GENE; NUCLEOTIDE SEQUENCE; POPULATION RESEARCH; VENEZUELA;

ADOLESCENT; ALLELES; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; CONNEXINS; FEMALE; GENE FREQUENCY; GENES, RECESSIVE; GENETIC SCREENING; HEARING LOSS; HUMANS; INFANT; MALE; PEDIGREE; SEQUENCE DELETION; VENEZUELA;

EID: 38149079946     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2006.0526     Document Type: Article

References (24)

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