A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family.
Shearer
A Eliot
AE
Department of Otolaryngology, Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA.
Hildebrand
Michael S
MS
Bromhead
Catherine J
CJ
Kahrizi
Kimia
K
Webster
Jennifer A
JA
Azadeh
Batool
B
Kimberling
William J
WJ
Anousheh
Ali
A
Nazeri
Arash
A
Stephan
Dietrich
D
Najmabadi
Hossein
H
Smith
Richard J H
RJ
Bahlo
Melanie
M
D016022:Case-Control Studies; D002880:Chromosomes, Human, Pair 11; D003598:Cytoskeletal Proteins / Q000737:chemistry / Q000235:genetics*; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005190:Family; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D034381:Hearing Loss / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007438:Introns; D007492:Iran; D008126:Lod Score; D008297:Male; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics*; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D010375:Pedigree; D020161:Physical Chromosome Mapping; D020641:Polymorphism, Single Nucleotide; D017434:Protein Structure, Tertiary; D022821:RNA Splice Sites / Q000235:genetics*; D011995:Recombination, Genetic
D003598:Cytoskeletal Proteins; D005819:Genetic Markers; D008565:Membrane Proteins; D022821:RNA Splice Sites; C071776:radixin; D004247:DNA