Founder effect, seen in the British population, of the 172 peripherin/RDS mutation- and further refinement of genetic positioning of the peripherin/RDS gene [2]

American Journal of Human Genetics

Volumn 62, Issue 1, 1998, Pages 192-195

  Payne, A M ^a   Downes, S M ^a   Bessant, D A R ^a   Bird, A C ^a   Bhattacharya, S S ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYTOSINE; GLUTAMINE; MEMBRANE PROTEIN; PERIPHERIN; THYMIDINE; TRYPTOPHAN;

AMINO ACID SUBSTITUTION; CAUCASIAN; FAMILY STUDY; FOUNDER EFFECT; GENE FREQUENCY; GENE MUTATION; HUMAN; LETTER; MAJOR CLINICAL STUDY; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; RETINA DEGENERATION; RETINA DYSTROPHY; UNITED KINGDOM;

EID: 0031890396     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301679     Document Type: Letter

References (9)

1. TJ Keen CF Inglehearn Mutations and polymorphisms in the human peripherin/RDS gene and their involvement in inherited retinal degeneration Hum Mutat 8 1996 297 303
2. TJ Keen CF Inglehearn R Kim AC Bird S Bhattacharya Retinal pattern dystrophy associated with a 4bp insertion at codon 140 in the RDS-peripherin gene Hum Mol Genet 3 1994 367 368
3. M Nakazawa Y Wada M Tamai Macular dystrophy associated with monogenic Arg172Trp mutation of the peripherin RDS gene in a Japanese family Retina J Retinal Vitreous Dis 15 1995 518 523
4. B Piguet E Heon FL Munier PA Grounauer G Niemeyer N Butler DF Schorderet Full characterisation of the maculopathy associated with a Arg-172-Trp mutation in the RDS/peripherin gene Ophthalmic Genet 17 1996 175 186
5. C Reig A Serra E Gean M Vidal J Arumi MD Delacalzada J Antich A point mutation in the RDS-peripherin gene in a Spanish family with central areolar dystrophy Ophthalmic Genet 16 2 1995 39 44
6. Y Wada M Nakazaawa E Kikawa Y Chida T Shiono M Tamai Phenotypes of patients with autosomal dominant retinal degeneration associated with Tyr184Ser and Arg172Trp mutations of the peripherin/RDS gene Invest Opthalmol Vis Sci 36 1995 890
7. RG Weleber RE Carr WH Murphey VC Sheffield EM Stone Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/ RDS gene Arch Ophthalmol 111 1993 1531 1542
8. J Wells J Wroblewski J Keen C Inglehearn C Jubb A Eckstein M Jay Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy Nat Genet 3 1993 213 218
9. Wroblewski JJ JA Wells A Eckstein F Fitzke C Cubb TJ Keen C Inglehearn Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene Ophthalmology 101 1994 12 22