[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS ARG-67 AND ASN-261.
TISSUE=Retina;
DOI=10.1073/pnas.94.7.3128; PubMed=9096357 [NCBI, ExPASy, EBI, Israel, Japan]
North M.A.,
Naggert J.K.,
Yan Y.,
Noben-Trauth K.,
Nishina P.M.;
"Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases.";
Proc. Natl. Acad. Sci. U.S.A. 94:3128-3133(1997).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS ARG-67 AND ASN-261.
DOI=10.1038/ng0298-177; PubMed=9462751 [NCBI, ExPASy, EBI, Israel, Japan]
Banerjee P.,
Kleyn P.W.,
Knowles J.A.,
Lewis C.A.,
Ross B.M.,
Parano E.,
Kovats S.G.,
Lee J.J.,
Penchaszadeh G.K.,
Ott J.,
Jacobson S.G.,
Gilliam T.C.;
"TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa.";
Nat. Genet. 18:177-179(1998).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02055; PubMed=14574404 [NCBI, ExPASy, EBI, Israel, Japan]
Mungall A.J.,
Palmer S.A.,
Sims S.K.,
Edwards C.A.,
Ashurst J.L.,
Wilming L.,
Jones M.C.,
Horton R.,
Hunt S.E.,
Scott C.E.,
Gilbert J.G.R.,
Clamp M.E.,
Bethel G.,
Milne S.,
Ainscough R.,
Almeida J.P.,
Ambrose K.D.,
Andrews T.D.,
Ashwell R.I.S., ![]()
Babbage A.K.,
Bagguley C.L.,
Bailey J.,
Banerjee R.,
Barker D.J.,
Barlow K.F.,
Bates K.,
Beare D.M.,
Beasley H.,
Beasley O.,
Bird C.P.,
Blakey S.E.,
Bray-Allen S.,
Brook J.,
Brown A.J.,
Brown J.Y.,
Burford D.C.,
Burrill W.,
Burton J.,
Carder C.,
Carter N.P.,
Chapman J.C.,
Clark S.Y.,
Clark G.,
Clee C.M.,
Clegg S.,
Cobley V.,
Collier R.E.,
Collins J.E.,
Colman L.K.,
Corby N.R.,
Coville G.J.,
Culley K.M.,
Dhami P.,
Davies J.,
Dunn M.,
Earthrowl M.E.,
Ellington A.E.,
Evans K.A.,
Faulkner L.,
Francis M.D.,
Frankish A.,
Frankland J.,
French L.,
Garner P.,
Garnett J.,
Ghori M.J.,
Gilby L.M.,
Gillson C.J.,
Glithero R.J.,
Grafham D.V.,
Grant M.,
Gribble S.,
Griffiths C.,
Griffiths M.N.D.,
Hall R.,
Halls K.S.,
Hammond S.,
Harley J.L.,
Hart E.A.,
Heath P.D.,
Heathcott R.,
Holmes S.J.,
Howden P.J.,
Howe K.L.,
Howell G.R.,
Huckle E.,
Humphray S.J.,
Humphries M.D.,
Hunt A.R.,
Johnson C.M.,
Joy A.A.,
Kay M.,
Keenan S.J.,
Kimberley A.M.,
King A.,
Laird G.K.,
Langford C.,
Lawlor S.,
Leongamornlert D.A.,
Leversha M.,
Lloyd C.R.,
Lloyd D.M.,
Loveland J.E.,
Lovell J.,
Martin S.,
Mashreghi-Mohammadi M.,
Maslen G.L.,
Matthews L.,
McCann O.T.,
McLaren S.J.,
McLay K.,
McMurray A.,
Moore M.J.F.,
Mullikin J.C.,
Niblett D.,
Nickerson T.,
Novik K.L.,
Oliver K.,
Overton-Larty E.K.,
Parker A.,
Patel R.,
Pearce A.V.,
Peck A.I.,
Phillimore B.J.C.T.,
Phillips S.,
Plumb R.W.,
Porter K.M.,
Ramsey Y.,
Ranby S.A.,
Rice C.M.,
Ross M.T.,
Searle S.M.,
Sehra H.K.,
Sheridan E.,
Skuce C.D.,
Smith S.,
Smith M.,
Spraggon L.,
Squares S.L.,
Steward C.A.,
Sycamore N.,
Tamlyn-Hall G.,
Tester J.,
Theaker A.J.,
Thomas D.W.,
Thorpe A.,
Tracey A.,
Tromans A.,
Tubby B.,
Wall M.,
Wallis J.M.,
West A.P.,
White S.S.,
Whitehead S.L.,
Whittaker H.,
Wild A.,
Willey D.J.,
Wilmer T.E.,
Wood J.M.,
Wray P.W.,
Wyatt J.C.,
Young L.,
Younger R.M.,
Bentley D.R.,
Coulson A.,
Durbin R.M.,
Hubbard T.,
Sulston J.E.,
Dunham I.,
Rogers J.,
Beck S.;
"The DNA sequence and analysis of human chromosome 6.";
Nature 425:805-811(2003).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT ASN-261.
TISSUE=Eye;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[5]
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VARIANTS RP14 120-GLU--ASP-127 DEL; ARG-489 AND THR-496.
DOI=10.1016/S0140-6736(05)79384-3; PubMed=9660588 [NCBI, ExPASy, EBI, Israel, Japan]
Gu S.,
Lennon A.,
Li Y.,
Lorenz B.,
Fossarello M.,
North M.,
Gal A.,
Wright A.;
"Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa.";
Lancet 351:1103-1104(1998).
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[6]
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VARIANTS RP14 PRO-420; LYS-459 AND LEU-491.
DOI=10.1038/ng0298-174; PubMed=9462750 [NCBI, ExPASy, EBI, Israel, Japan]
Hagstrom S.A.,
North M.A.,
Nishina P.M.,
Berson E.L.,
Dryja T.P.;
"Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa.";
Nat. Genet. 18:174-176(1998).
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[7]
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VARIANT RP14 SER-382.
DOI=10.1167/iovs.04-0544; PubMed=15557452 [NCBI, ExPASy, EBI, Israel, Japan]
Kondo H.,
Qin M.,
Mizota A.,
Kondo M.,
Hayashi H.,
Hayashi K.,
Oshima K.,
Tahira T.,
Hayashi K.;
"A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.";
Invest. Ophthalmol. Vis. Sci. 45:4433-4439(2004).
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