Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency).
about
Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase proteinAnalysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinismContiguous gene syndromes due to deletions in the distal short arm of the human X chromosomePathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolismCloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosisAn Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometryLong-range restriction map of the terminal part of the short arm of the human X chromosomeGenetic mapping of X linked ocular albinism: linkage analysis in British families.Monozygotic twins discordant for Aicardi syndromeX-linked ichthyosis: an update.Molecular studies of deletions at the human steroid sulfatase locus.Linkage of the murine steroid sulfatase locus, Sts, to sex reversed, Sxr: a genetic and molecular analysis.Characterization of a low copy repetitive element S232 involved in the generation of frequent deletions of the distal short arm of the human X chromosomeIntragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutA long range restriction map of the distal human X chromosome short arm around the steroid sulfatase locus.Role of cholesterol sulfate in epidermal structure and function: lessons from X-linked ichthyosis.Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency.A probe from an X-Y homology region detects RFLPs in Xq13-q22.Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene.A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3).Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus
P2860
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P2860
Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency).
description
1987 nî lūn-bûn
@nan
1987年の論文
@ja
1987年学术文章
@wuu
1987年学术文章
@zh-cn
1987年学术文章
@zh-hans
1987年学术文章
@zh-my
1987年学术文章
@zh-sg
1987年學術文章
@yue
1987年學術文章
@zh
1987年學術文章
@zh-hant
name
Deletion of a DNA sequence in ...... teroid sulphatase deficiency).
@ast
Deletion of a DNA sequence in ...... teroid sulphatase deficiency).
@en
type
label
Deletion of a DNA sequence in ...... teroid sulphatase deficiency).
@ast
Deletion of a DNA sequence in ...... teroid sulphatase deficiency).
@en
prefLabel
Deletion of a DNA sequence in ...... teroid sulphatase deficiency).
@ast
Deletion of a DNA sequence in ...... teroid sulphatase deficiency).
@en
P2093
P2860
P356
P1476
Deletion of a DNA sequence in ...... teroid sulphatase deficiency).
@en
P2093
Ferguson-Smith MA
Gillard EF
P2860
P304
P356
10.1093/NAR/15.10.3977
P407
P577
1987-05-01T00:00:00Z