Role of the Pro23Leu mutation in a family affected by retinitis pigmentosa in the Basque Country [2]

Clinical Genetics

Volumn 56, Issue 5, 1999, Pages 407-408

  Tejada, Maria I ^a  

^a HOSPITAL DE BASURTO   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

LEUCINE; PROLINE; RHODOPSIN;

ADULT; AGED; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN CELL; LETTER; MALE; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SPAIN;

AGED; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; RETINITIS PIGMENTOSA; RHODOPSIN;

EID: 0342948716     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (5)

1. Alvarez AI, Arostegui E, Martin R, Duran M, Onaindia ML, Molina M, Tejada MI. Molecular study of the rhodopsin gene in retinitis pigmentosa patients in the Basque Country. J Med Genet 1998: 35: 387-390.
2. Dryja TP, Hahn LB, Cowley GS, McGee TL, Berson EL. Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci USA 1991: 88: 9370-9374.
3. Barkur S, Shastry BS. Retinitis pigmentosa and related disorders: phenotypes of rhodopsin and peripherin/RDS mutations. Am J Med Genet 1994: 52: 467-474.
4. Berson EL, Simonoff EA. Dominant retinitis pigmentosa with reduced penetrance: further studies of the electroretinogram. Arch Ophthalmol 1979: 97 (7): 1286-1291.
5. Moore AT, Fitzke F, Jay M, Arden GB, Inglehearn CF, Keen TJ, Bhattacharya SS, Bird AC. Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical and molecular genetic study. Br J Ophthalmol 1993: 77 (8): 473-479.