[1]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Kidney;
DOI=10.1111/j.1432-1033.1997.00239.x; PubMed=9363775 [NCBI, ExPASy, EBI, Israel, Japan]
Weiss B.,
Stoffel W.;
"Human and murine serine-palmitoyl-CoA transferase. Cloning, expression and characterization of the key enzyme in sphingolipid synthesis.";
Eur. J. Biochem. 249:239-247(1997).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], AND VARIANTS HSAN1 TRP-133; TYR-133 AND ASP-144.
DOI=10.1038/85879; PubMed=11242114 [NCBI, ExPASy, EBI, Israel, Japan]
Dawkins J.L.,
Hulme D.J.,
Brahmbhatt S.B.,
Auer-Grumbach M.,
Nicholson G.A.;
"Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.";
Nat. Genet. 27:309-312(2001).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02465; PubMed=15164053 [NCBI, ExPASy, EBI, Israel, Japan]
Humphray S.J.,
Oliver K.,
Hunt A.R.,
Plumb R.W.,
Loveland J.E.,
Howe K.L.,
Andrews T.D.,
Searle S.,
Hunt S.E.,
Scott C.E.,
Jones M.C.,
Ainscough R.,
Almeida J.P.,
Ambrose K.D.,
Ashwell R.I.S.,
Babbage A.K.,
Babbage S.,
Bagguley C.L.,
Bailey J., ![]()
Banerjee R.,
Barker D.J.,
Barlow K.F.,
Bates K.,
Beasley H.,
Beasley O.,
Bird C.P.,
Bray-Allen S.,
Brown A.J.,
Brown J.Y.,
Burford D.,
Burrill W.,
Burton J.,
Carder C.,
Carter N.P.,
Chapman J.C.,
Chen Y.,
Clarke G.,
Clark S.Y.,
Clee C.M.,
Clegg S.,
Collier R.E.,
Corby N.,
Crosier M.,
Cummings A.T.,
Davies J.,
Dhami P.,
Dunn M.,
Dutta I.,
Dyer L.W.,
Earthrowl M.E.,
Faulkner L.,
Fleming C.J.,
Frankish A.,
Frankland J.A.,
French L.,
Fricker D.G.,
Garner P.,
Garnett J.,
Ghori J.,
Gilbert J.G.R.,
Glison C.,
Grafham D.V.,
Gribble S.,
Griffiths C.,
Griffiths-Jones S.,
Grocock R.,
Guy J.,
Hall R.E.,
Hammond S.,
Harley J.L.,
Harrison E.S.I.,
Hart E.A.,
Heath P.D.,
Henderson C.D.,
Hopkins B.L.,
Howard P.J.,
Howden P.J.,
Huckle E.,
Johnson C.,
Johnson D.,
Joy A.A.,
Kay M.,
Keenan S.,
Kershaw J.K.,
Kimberley A.M.,
King A.,
Knights A.,
Laird G.K.,
Langford C.,
Lawlor S.,
Leongamornlert D.A.,
Leversha M.,
Lloyd C.,
Lloyd D.M.,
Lovell J.,
Martin S.,
Mashreghi-Mohammadi M.,
Matthews L.,
McLaren S.,
McLay K.E.,
McMurray A.,
Milne S.,
Nickerson T.,
Nisbett J.,
Nordsiek G.,
Pearce A.V.,
Peck A.I.,
Porter K.M.,
Pandian R.,
Pelan S.,
Phillimore B.,
Povey S.,
Ramsey Y.,
Rand V.,
Scharfe M.,
Sehra H.K.,
Shownkeen R.,
Sims S.K.,
Skuce C.D.,
Smith M.,
Steward C.A.,
Swarbreck D.,
Sycamore N.,
Tester J.,
Thorpe A.,
Tracey A.,
Tromans A.,
Thomas D.W.,
Wall M.,
Wallis J.M.,
West A.P.,
Whitehead S.L.,
Willey D.L.,
Williams S.A.,
Wilming L.,
Wray P.W.,
Young L.,
Ashurst J.L.,
Coulson A.,
Blocker H.,
Durbin R.M.,
Sulston J.E.,
Hubbard T.,
Jackson M.J.,
Bentley D.R.,
Beck S.,
Rogers J.,
Dunham I.;
"DNA sequence and analysis of human chromosome 9.";
Nature 429:369-374(2004).
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[4]
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TISSUE SPECIFICITY.
DOI=10.1074/jbc.M608066200; PubMed=17023427 [NCBI, ExPASy, EBI, Israel, Japan]
Hornemann T.,
Richard S.,
Ruetti M.F.,
Wei Y.,
von Eckardstein A.;
"Cloning and initial characterization of a new subunit for mammalian serine-palmitoyltransferase.";
J. Biol. Chem. 281:37275-37281(2006).
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[5]
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IDENTIFICATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
Colinge J.,
Superti-Furga G.,
Bennett K.L.;
Submitted (OCT-2008) to UniProtKB.
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[6]
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VARIANT HSAN1 ALA-387.
PubMed=15037712 [NCBI, ExPASy, EBI, Israel, Japan]
Verhoeven K.,
Coen K.,
De Vriendt E.,
Jacobs A.,
Van Gerwen V.,
Smouts I.,
Pou-Serradell A.,
Martin J.-J.,
Timmerman V.,
De Jonghe P.;
"SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.";
Neurology 62:1001-1002(2004).
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[7]
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VARIANT LEU-151.
DOI=10.1212/01.wnl.0000240068.21499.f5; PubMed=17060578 [NCBI, ExPASy, EBI, Israel, Japan]
Meggouh F.,
Bienfait H.M.E.,
Weterman M.A.J.,
de Visser M.,
Baas F.;
"Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene.";
Neurology 67:1476-1478(2006).
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[8]
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VARIANT [LARGE SCALE ANALYSIS] TRP-239.
DOI=10.1126/science.1133427; PubMed=16959974 [NCBI, ExPASy, EBI, Israel, Japan]
Sjoeblom T.,
Jones S.,
Wood L.D.,
Parsons D.W.,
Lin J.,
Barber T.D.,
Mandelker D.,
Leary R.J.,
Ptak J.,
Silliman N.,
Szabo S.,
Buckhaults P.,
Farrell C.,
Meeh P.,
Markowitz S.D.,
Willis J.,
Dawson D.,
Willson J.K.V.,
Gazdar A.F., ![]()
Hartigan J.,
Wu L.,
Liu C.,
Parmigiani G.,
Park B.H.,
Bachman K.E.,
Papadopoulos N.,
Vogelstein B.,
Kinzler K.W.,
Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal cancers.";
Science 314:268-274(2006).
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