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Histidine77, glutamic acid81, glutamic acid123, threonine126, asparagine194, and tryptophan197 of the human emopamil binding protein are required for in vivo sterol delta 8-delta 7 isomerization.
Biochemistry. 1999 Jan 19;38(3):1119-27. doi: 10.1021/bi981804i.
Biochemistry. 1999.
PMID: 9894009
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome.
Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D.
Braverman N, et al.
Nat Genet. 1999 Jul;22(3):291-4. doi: 10.1038/10357.
Nat Genet. 1999.
PMID: 10391219
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