Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism.
about
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosisMutations in the human DHCR7 gene.Distribution and functions of sterols and sphingolipids.Smith-Lemli-Opitz syndrome and the DHCR7 gene.Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G-->C is found in over sixty percent of US propositi.Nuclear receptor DHR96 acts as a sentinel for low cholesterol concentrations in Drosophila melanogaster.Feedback inhibition of the cholesterol biosynthetic pathway in patients with Smith-Lemli-Opitz syndrome as demonstrated by urinary mevalonate excretion.Transport of cholesterol across a BeWo cell monolayer: implications for net transport of sterol from maternal to fetal circulation.Characterization of large deletions in the DHCR7 gene.
P2860
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P2860
Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism.
description
1999 nî lūn-bûn
@nan
1999 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism.
@ast
Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism.
@en
type
label
Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism.
@ast
Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism.
@en
prefLabel
Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism.
@ast
Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism.
@en
P2093
P1476
Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism.
@en
P2093
Glossmann H
Moebius FF
Utermann G
P304
P356
10.1097/00041433-199904000-00006
P577
1999-04-01T00:00:00Z