Novel 473-bp deletion in XLRS1 gene in a Japanese family with X-linked juvenile retinoschisis

Graefe's Archive for Clinical and Experimental Ophthalmology

Volumn 242, Issue 7, 2004, Pages 561-565

  Shinoda, Kei ^a   Ohde, Hisao ^a   Ishida, Susumu ^a   Inoue, Makoto ^a   Oguchi, Yoshihisa ^a   Mashima, Yukihiko ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID;

ARTICLE; B WAVE; CASE REPORT; CHILD; CLINICAL FEATURE; CODON; DISEASE COURSE; ELECTROPHYSIOLOGY; ELECTRORETINOGRAM; EXON; FAMILY; FRAMESHIFT MUTATION; GENE DELETION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; JAPAN; LEUKOCYTE; MALE; NIGHT VISION; PHOTOPIC VISION; PRIORITY JOURNAL; RETINOSCHISIS; SIBLING; TRANSCRIPTION TERMINATION; VISUAL STIMULATION; VISUAL SYSTEM EXAMINATION; X CHROMOSOME LINKED DISORDER;

EID: 4344694215     PISSN: 0721832X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00417-004-0878-y     Document Type: Article

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