Clinical phenotype associated with the Arg 141 His mutation in the X- linked retinoschisis gene

Archives of Ophthalmology

Volumn 118, Issue 1, 2000, Pages 127-129

  Timothy Stout, J ^a  

^a Mail Stop 88 ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CELL DNA;

ADULT; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DNA DETERMINATION; ELECTRORETINOGRAPHY; FAMILY STUDY; FEMALE; GENE SEQUENCE; HUMAN; MALE; POINT MUTATION; PRIORITY JOURNAL; RETINOSCHISIS; X CHROMOSOME LINKAGE;

EID: 0342470954     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: 10.1001/archopht.118.1.127     Document Type: Article

References (6)

1. George NDL, Yates JRW, Moore AT. Clinical leatures in affected males with X-linked retinoschisis. Arch Ophthalmol 1996;114:274-280,
2. Yanoff M, Rahn EK, Zimmerman LE. Histopathology of juvenile retinoschisis. Arch Ophthalmol. 1968;79:49-53.
3. Sauer C, Gehrig A, Weber B. Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet. 1997;17:164-170.
4. Marmor MF, Zrenner E. Standard for clinical electroretinogaphy (1994 update). Doc Ophthalmol. 1995;89:199-210.
5. Birch DG. Clinical electroretinography. Ophthalmol Clin North Am. 1989;2:469-497.
6. The Retinoschisis Consortium. Functional implications of the spectrum of mutation found in 234 cases with X-linked juvenile retinoschisis Hum Molec Genet. 1998;7:1185-1192.