Novel USH2A mutations in Japanese Usher syndrome type 2 patients: Marked differences in the mutation spectrum between the Japanese and other populations

Journal of Human Genetics

Volumn 56, Issue 7, 2011, Pages 484-490

  Nakanishi, Hiroshi ^a   Ohtsubo, Masafumi ^a   Iwasaki, Satoshi ^b   Hotta, Yoshihiro ^a   Usami, Shin Ichi ^b   Mizuta, Kunihiro ^a   Mineta, Hiroyuki ^a   Minoshima, Shinsei ^a  

^a HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

haplotype; hearing loss; retinitis pigmentosa; USH2A; Usher syndrome

Indexed keywords

ADOLESCENT; ADULT; ARAB; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CAUCASIAN; CHILD; CLINICAL ARTICLE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENETIC SCREENING; HAPLOTYPE; HUMAN; JAPANESE; JEW; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; RETINITIS PIGMENTOSA; SINGLE NUCLEOTIDE POLYMORPHISM; USH2A GENE; USHER SYNDROME;

ADULT; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; FEMALE; GENOTYPE; HAPLOTYPES; HUMANS; JAPAN; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; USHER SYNDROMES;

EID: 79960750189     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.45     Document Type: Article

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