Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa

Lancet

Volumn 351, Issue 9109, 1998, Pages 1103-1104

  Gu, Sumin ^b   Lennon, Alan ^b   Li, Yun ^b   Lorenz, Birgit ^b   Fossarello, Maurizio ^b   North, Michael ^b   Gal, Andreas ^b   Wright, Alan ^a  

^a WESTERN GENERAL HOSPITAL   (United Kingdom)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; SYNAPSIN I;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; FAMILY; HUMAN; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

EID: 0040386021     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(05)79384-3     Document Type: Article

References (5)

1. 1 North MA, Naggert JK, Yan Y, Noben-Trauth K, Nishina PM. Molecular characteristion of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases. Proc Natl Acad Sci USA 1997; 94: 3128-33.
2. 2 Noben-Trauth K, Naggert JK, North MA, Nishina PM. A candidate gene for the mouse mutation tubby. Nature 1996; 380: 534-38.
3. 3 Knowles AJ, Shugart YY, Banerjee P, et al. Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p. Hum Molec Genet 1994; 3: 1401-03.
4. 4 Krawczak M, Reiss J, Cooper DN. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 1992; 90: 41-54.
5. 5 Sullivan LS, Daiger SP. Inherited retinal degeneration: exceptional genetic and clinical heterogeneity. Molec Med Today 1996; 2: 380-86.