Rhodopsin mutation G109R in a family with autosomal dominant retinitis pigmentosa

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Goliath, Rene ^a   Bardien, Soraya ^a   September, Alison ^a   Martin, Rebecca ^a   Ramesar, Rajkumar ^a   Greenberg, Jacquie ^a  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; ENDODEOXYRIBONUCLEASE FOKI; RHODOPSIN; TYPE II SITE SPECIFIC DEOXYRIBONUCLEASE;

AMINO ACID SUBSTITUTION; ARTICLE; CHEMISTRY; DOMINANT GENE; FAMILY HEALTH; GENETICS; HUMAN; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; RETINITIS PIGMENTOSA; SINGLE STRAND CONFORMATION POLYMORPHISM; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; FAMILY STUDY; GENE MUTATION; HUMAN CELL; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA DYSTROPHY;

AMINO ACID SUBSTITUTION; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; GENES, DOMINANT; HUMANS; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RETINITIS PIGMENTOSA; RHODOPSIN;

EID: 0031964978     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110114     Document Type: Article

References (7)

1. Apfelstedt-Sylla E, Kunisch M, Horn M, Ruther K, Gal A, Zrenner E (1992) Diffuse loss of rod function in autosomal dominant retini-tis pigmentosa with pro-347-leu mutation of rhodopsin. Ger J Ophthalmol 1:319-327.
2. Bardien S, Ebenezar N, Greenberg J, Ramesar R, Goliath R, Bartmann L, Beighton P, Bhattacharya S (1995) An eighth locus for autoso-mal dominant retinitis pigmentosa is genetically linked to chro-mosome 17q. Hum Mol Genet 4:1459-1460.
3. Greenberg J, Bartman L, Ramesar R, Beighton P (1993) Retinitis pigmentosa in Southern Africa. Clin Genet 44:232-235.
4. Greenberg J, Goliath R, Beighton P, Ramesar R (1994) A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17. Hum Mol Genet 3:915-918.
5. Heckenlively JR, Yoser SL, Friedman LH, Oversier JJ (1988) Clinical findings and common symptoms in retinitis pigmentosa. Am ] Ophthalmol 105:504-511.
6. Kaushal S, Khorana HG (1994) Structure and function in rhodopsin 7 point mutations associated with autosomal dominant retinitis pigmentosa. Biochemistry 33:6121-6128.
7. Macke JP, Hennessey JC, Nathans J (1995) Rhodopsin mutation pro-line -to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347. Hum Mol Genet 4:775-776