[1]
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NUCLEOTIDE SEQUENCE [MRNA], VARIANTS PFIC1 SER-288; VAL-308; 645-ILE--ILE-699 DEL AND ARG-892, VARIANTS BRIC1 THR-661 AND 795-GLY--ARG-797 DEL, AND VARIANT THR-1152.
TISSUE=Intestine, and Liver;
DOI=10.1038/ng0398-219; PubMed=9500542 [NCBI, ExPASy, EBI, Israel, Japan]
Bull L.N.,
van Eijk M.J.T.,
Pawlikowska L.,
DeYoung J.A.,
Juijn J.A.,
Liao M.,
Klomp L.W.J.,
Lomri N.,
Berger R.,
Scharschmidt B.F.,
Knisely A.S.,
Houwen R.H.J.,
Freimer N.B.;
"A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.";
Nat. Genet. 18:219-223(1998).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature03983; PubMed=16177791 [NCBI, ExPASy, EBI, Israel, Japan]
Nusbaum C.,
Zody M.C.,
Borowsky M.L.,
Kamal M.,
Kodira C.D.,
Taylor T.D.,
Whittaker C.A.,
Chang J.L.,
Cuomo C.A.,
Dewar K.,
FitzGerald M.G.,
Yang X.,
Abouelleil A.,
Allen N.R.,
Anderson S.,
Bloom T.,
Bugalter B.,
Butler J.,
Cook A.,
DeCaprio D.,
Engels R.,
Garber M.,
Gnirke A.,
Hafez N.,
Hall J.L.,
Norman C.H.,
Itoh T.,
Jaffe D.B.,
Kuroki Y.,
Lehoczky J.,
Lui A.,
Macdonald P.,
Mauceli E.,
Mikkelsen T.S.,
Naylor J.W.,
Nicol R.,
Nguyen C.,
Noguchi H.,
O'Leary S.B.,
Piqani B.,
Smith C.L.,
Talamas J.A.,
Topham K.,
Totoki Y.,
Toyoda A.,
Wain H.M.,
Young S.K.,
Zeng Q.,
Zimmer A.R.,
Fujiyama A.,
Hattori M.,
Birren B.W.,
Sakaki Y.,
Lander E.S.;
"DNA sequence and analysis of human chromosome 18.";
Nature 437:551-555(2005).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA] OF 388-661.
TISSUE=Colon tumor;
PubMed=9548971 [NCBI, ExPASy, EBI, Israel, Japan]
Halleck M.S.,
Pradhan D.,
Blackman C.F.,
Berkes C.,
Williamson P.L.,
Schlegel R.A.;
"Multiple members of a third subfamily of P-type ATPases identified by genomic sequences and ESTs.";
Genome Res. 8:354-361(1998).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 359-1251, AND VARIANT THR-1152.
TISSUE=Uterus;
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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VARIANT BRIC1 THR-661.
DOI=10.1002/hep.510290214; PubMed=9918928 [NCBI, ExPASy, EBI, Israel, Japan]
Tygstrup N.,
Steig B.A.,
Juijn J.A.,
Bull L.N.,
Houwen R.H.J.;
"Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity.";
Hepatology 29:506-508(1999).
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[6]
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VARIANT PFIC1 ASN-554.
DOI=10.1053/jhep.2000.20520; PubMed=11093741 [NCBI, ExPASy, EBI, Israel, Japan]
Klomp L.W.J.,
Bull L.N.,
Knisely A.S.,
van Der Doelen M.A.,
Juijn J.A.,
Berger R.,
Forget S.,
Nielsen I.-M.,
Eiberg H.,
Houwen R.H.J.;
"A missense mutation in FIC1 is associated with Greenland familial cholestasis.";
Hepatology 32:1337-1341(2000).
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[7]
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VARIANTS PFIC1 PRO-127; TYR-403; PRO-412; MET-456; HIS-500; PHE-529 DEL; LEU-535; ASN-554; THR-661; GLY-688; ARG-733; SER-853; ARG-892 AND ARG-1040, VARIANTS BRIC1 ASN-70; ASP-308; PHE-344; TYR-453; GLY-454; TRP-600; GLN-600; TRP-628; THR-661; THR-694 AND ARG-892, AND VARIANT ALA-429.
DOI=10.1002/hep.20285; PubMed=15239083 [NCBI, ExPASy, EBI, Israel, Japan]
Klomp L.W.J.,
Vargas J.C.,
van Mil S.W.C.,
Pawlikowska L.,
Strautnieks S.S.,
van Eijk M.J.T.,
Juijn J.A.,
Pabon-Pena C.,
Smith L.B.,
DeYoung J.A.,
Byrne J.A.,
Gombert J.,
van der Brugge G.,
Berger R.,
Jankowska I.,
Pawlowska J.,
Villa E.,
Knisely A.S.,
Thompson R.J.,
Freimer N.B.,
Houwen R.H.J.,
Bull L.N.;
"Characterization of mutations in ATP8B1 associated with hereditary cholestasis.";
Hepatology 40:27-38(2004).
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[8]
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VARIANTS ICP THR-45 AND GLU-203, AND VARIANT GLN-952.
DOI=10.1038/sj.ejhg.5201355; PubMed=15657619 [NCBI, ExPASy, EBI, Israel, Japan]
Painter J.N.,
Savander M.,
Ropponen A.,
Nupponen N.,
Riikonen S.,
Ylikorkala O.,
Lehesjoki A.E.,
Aittomaki K.;
"Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy.";
Eur. J. Hum. Genet. 13:435-439(2005).
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[9]
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VARIANT ICP CYS-867, AND VARIANTS ASN-70; ILE-305 AND GLN-952.
DOI=10.1136/gut.2004.058115; PubMed=15888793 [NCBI, ExPASy, EBI, Israel, Japan]
Muellenbach R.,
Bennett A.,
Tetlow N.,
Patel N.,
Hamilton G.,
Cheng F.,
Chambers J.,
Howard R.,
Taylor-Robinson S.D.,
Williamson C.;
"ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.";
Gut 54:829-834(2005).
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[10]
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VARIANTS [LARGE SCALE ANALYSIS] VAL-886 AND MET-1178.
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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