Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-671; GLN-723; THR-861; SER-1047 AND ILE-1146;
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.
Le Saux O.; Urban Z.; Tschuch C.; Csiszar K.; Bacchelli B.; Quaglino D.; Pasquali-Ronchetti I.; Pope F.M.; Richards A.; Terry S.; Bercovitch L.; de Paepe A.; Boyd C.D.;
Nat. Genet. 25:223-227(2000)
Cited for: VARIANTS GLN-633 AND VAL-671;
Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.
Ringpfeil F.; Lebwohl M.G.; Christiano A.M.; Uitto J.;
Proc. Natl. Acad. Sci. U.S.A. 97:6001-6006(2000)
Cited for: VARIANT VAL-671;
Identification of human multidrug resistance protein 1 (MRP1) mutations and characterization of a G671V substitution.
Conrad S.; Kauffmann H.-M.; Ito K.; Deeley R.G.; Cole S.P.C.; Schrenk D.;
J. Hum. Genet. 46:656-663(2001)
Cited for: VARIANT SER-433; CHARACTERIZATION OF VARIANT VAL-671;
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