A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family

American Journal of Medical Genetics, Part A

Volumn 149, Issue 3, 2009, Pages 555-558

  Shearer, A Eliot ^a   Hildebrand, Michael S ^a   Bromhead, Catherine J ^b,c   Kahrizi, Kimia ^d   Webster, Jennifer A ^e   Azadeh, Batool ^f   Kimberling, William J ^g   Anousheh, Ali ^d   Nazeri, Arash ^d   Stephan, Dietrich ^e,h,i   Najmabadi, Hossein ^d   Smith, Richard J H ^a,j   Bahlo, Melanie ^b  

^a UNIVERSITY OF IOWA   (United States)

^b WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d UNIVERSITY OF SOCIAL WELFARE AND REHABILITATION SCIENCES   (Iran)

^e TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

^f Welfare Institution   (Iran)

^g BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

^h ARIZONA ALZHEIMER S CONSORTIUM   (United States)

ⁱ BANNER ALZHEIMER S INSTITUTE   (United States)

^j UNIVERSITY OF IOWA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; RADIXIN;

AUTOSOMAL RECESSIVE INHERITANCE; BLOOD SAMPLING; CONSANGUINEOUS MARRIAGE; DNA EXTRACTION; GENE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC ALGORITHM; GENETIC ASSOCIATION; GENETIC RECOMBINATION; HEARING IMPAIRMENT; HERITABILITY; HUMAN; IRAN; LETTER; MUTATIONAL ANALYSIS; NONHUMAN; PEDIGREE; PREDICTION; PRIORITY JOURNAL; RDX GENE; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM;

CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 11; CYTOSKELETAL PROTEINS; DNA; FAMILY; FEMALE; GENETIC MARKERS; HEARING LOSS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INTRONS; IRAN; LINKAGE (GENETICS); LOD SCORE; MALE; MEMBRANE PROTEINS; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; PHYSICAL CHROMOSOME MAPPING; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN STRUCTURE, TERTIARY; RECOMBINATION, GENETIC; RNA SPLICE SITES;

EID: 61749084097     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32670     Document Type: Letter

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