id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_3qacul5qa5d4pk3lgwh7sr7tre	Susanne Heimer	Mutations in the human ATP-binding cassette transportersABCG5 andABCG8 in sitosterolemia	2002	5	.pdf	application/pdf	2823	336	74	patient is the first European showing a mutation of the ABCG5 gene. found a novel heterozygous mutation in exon 5 of ABCG8 (c.584T>A; Leu195Gln). mutation in the ABCG5 gene of a European Sitosterolemia patient. © 2002 Wiley-Liss, Inc. KEY WORDS: ATP-binding cassette transporters; ABCG5; ABCG8; beta-sitosterol; Sitosterolemia; cholesterol mutations in two newly described adjacent half-size ATP-binding cassette transporters ABCG5 (MIM# 605459) Sitosterolemia patients and could identify a novel mutation in the ABCG8 gene and report the first ABCG5 In Patient 2, we detected a heterozygous missense mutation in the ABCG8 gene. In the remaining three patients we found exclusively mutations in the ABCG8 gene. A previously reported point mutation in ABCG5, Arg408X was identified in patient 1. Four other unrelated patients with Sitosterolemia all carried mutations in the ABCG8 gene. We also have identified earlier described mutations on both alleles of the ABCG8 gene in three patients.	./cache/work_3qacul5qa5d4pk3lgwh7sr7tre.pdf	./txt/work_3qacul5qa5d4pk3lgwh7sr7tre.txt