Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis

Japanese Journal of Ophthalmology

Volumn 54, Issue 1, 2010, Pages 89-93

  Atchaneeyasakul, La Ongsri ^a   Trinavarat, Adisak ^a   Pituksung, Auengporn ^a   Jinda, Worapoj ^a   Thongnoppakhun, Wanna ^a   Limwongse, Chanin ^a  

^a MAHIDOL UNIVERSITY   (Thailand)

Author keywords

Missense mutation; Retinoschisin; X linked juvenile retinoschisis; XLRS

Indexed keywords

ADULT; ARTICLE; BLURRED VISION; CASE REPORT; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; ELECTRORETINOGRAPHY; EXON; EYE; EYE PHOTOGRAPHY; FAMILY; GENE; GENE AMPLIFICATION; GENE MUTATION; GENETIC IDENTIFICATION; HUMAN; INFANT; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RETINA MACULA LUTEA; RETINOSCHISIS; THAILAND; VITREOUS HEMORRHAGE; X CHROMOSOME LINKED DISORDER; X LINKED JUVENILE RETINOSCHISIS; XLRS1 GENE;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EXONS; EYE PROTEINS; HUMANS; INFANT; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; RETINOSCHISIS; SEQUENCE ANALYSIS, DNA; THAILAND; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VITREOUS HEMORRHAGE;

EID: 77249096091     PISSN: 00215155     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10384-009-0748-6     Document Type: Article

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