USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1

Journal of Human Genetics

Volumn 57, Issue 10, 2012, Pages 633-637

  Jaworek, Thomas J ^a   Bhatti, Rashid ^b   Latief, Noreen ^c   Khan, Shaheen N ^d   Riazuddin, Saima ^b   Ahmed, Zubair M ^e  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF THE PUNJAB   (Pakistan)

^d CINCINNATI CHILDREN S HOSPITAL RESEARCH FOUNDATION   (United States)

^e BAHAUDDIN ZAKARIYA UNIVERSITY   (Pakistan)

Author keywords

10p11.21 q21.1; deafness; DFNB33; retinitis pigmentosa; USH1K; Usher syndrome; vestibular dysfunction

Indexed keywords

FZD4 PROTEIN; GJD4 PROTEIN; LRRCC18 PROTEIN; PCDH15 PROTEIN; PROTEIN; PROTEIN RET; UNCLASSIFIED DRUG; USH1K PROTEIN;

ADOLESCENT; ADULT; ARTICLE; BLINDNESS; CHILD; CHROMOSOME 10P; CHROMOSOME MAP; CONSANGUINITY; FEMALE; GENE LOCUS; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC MARKER; GENETIC RECOMBINATION; GENETIC SCREENING; GENOTYPE; HEARING IMPAIRMENT; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; MEIOTIC RECOMBINATION; PAKISTAN; RETINITIS PIGMENTOSA; SCHOOL CHILD; SHORT TANDEM REPEAT; USHER SYNDROME; VESTIBULAR DISORDER;

ADOLESCENT; ADULT; ALLELES; CADHERINS; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 10; FEMALE; GENE FREQUENCY; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HEARING LOSS, SENSORINEURAL; HOMOZYGOTE; HUMANS; LOD SCORE; MALE; MEIOSIS; MIDDLE AGED; PAKISTAN; PEDIGREE; RECOMBINATION, GENETIC; USHER SYNDROMES; YOUNG ADULT;

EID: 84867953576     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.79     Document Type: Article

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