A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews

American Journal of Medical Genetics, Part A

Volumn 155, Issue 5, 2011, Pages 1170-1172

  Edvardson, S ^a   Jalas, C ^b   Shaag, A ^a   Zenvirt, S ^a   Landau, C ^b   Lerer, I ^a   Elpeleg, O ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b Bonei Olam   (United States)

Author keywords

Ashkenazi; Deafness; Hearing loss; LOXHD1

Indexed keywords

ARGININE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME 18; CLINICAL ARTICLE; COCHLEA PROSTHESIS; CONGENITAL DEAFNESS; DISEASE SEVERITY; EVOKED BRAIN STEM AUDITORY RESPONSE; GENE; GENE MUTATION; GENETIC SCREENING; GJB2 GENE; GJB6 GENE; HETEROZYGOTE DETECTION; HOMOZYGOSITY; HUMAN; JEW; LOXHD1 GENE; MUTATIONAL ANALYSIS; OTOACOUSTIC EMISSION; PEDIGREE ANALYSIS; PERCEPTION DEAFNESS; PREMATURE STOP CODON; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; STOP CODON;

ADOLESCENT; ADULT; BASE SEQUENCE; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; DNA PRIMERS; GENES, RECESSIVE; HEARING LOSS; HUMANS; JEWS; MUTATION;

EID: 79955038896     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33972     Document Type: Article

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