Condition: Retinitis Pigmentosa 14
rs121909073 in
TULP1 gene and
Retinitis Pigmentosa 14
PMID 9660588 1998 Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa.
PMID 19837063 2010 Identification of tubby and tubby-like protein 1 as eat-me signals by phage display.
PMID 15557452 2004 A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.
PMID 17620573 2007 Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.
PMID 9462750 1998 Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa.