Molecular studies of deletions at the human steroid sulfatase locus.
about
A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardationCharacterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase proteinAccurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolismIdentification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosisThe Regulation of Steroid Action by Sulfation and DesulfationX-linked ichthyosis: an update.Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.Identification of a major recombination hotspot in patients with short stature and SHOX deficiency.Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis.Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome.A model of corrective gene transfer in X-linked ichthyosis.Lipolysis - a highly regulated multi-enzyme complex mediates the catabolism of cellular fat stores.Disorders caused by chromosome abnormalities.Characterization of a low copy repetitive element S232 involved in the generation of frequent deletions of the distal short arm of the human X chromosomeParental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.Defining DNA diagnostic tests appropriate or standard clinical careUniversal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor geneA long range restriction map of the distal human X chromosome short arm around the steroid sulfatase locus.High-frequency illegitimate integration of transfected DNA at preintegrated target sites in a mammalian genomeRecombination by sequence repeats with formation of suppressive or residual mitochondrial DNA in Neurospora.Role of cholesterol sulfate in epidermal structure and function: lessons from X-linked ichthyosis.Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis.
P2860
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P2860
Molecular studies of deletions at the human steroid sulfatase locus.
description
1989 nî lūn-bûn
@nan
1989 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1989 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
name
Molecular studies of deletions at the human steroid sulfatase locus.
@ast
Molecular studies of deletions at the human steroid sulfatase locus.
@en
Molecular studies of deletions at the human steroid sulfatase locus.
@nl
type
label
Molecular studies of deletions at the human steroid sulfatase locus.
@ast
Molecular studies of deletions at the human steroid sulfatase locus.
@en
Molecular studies of deletions at the human steroid sulfatase locus.
@nl
prefLabel
Molecular studies of deletions at the human steroid sulfatase locus.
@ast
Molecular studies of deletions at the human steroid sulfatase locus.
@en
Molecular studies of deletions at the human steroid sulfatase locus.
@nl
P2093
P2860
P356
P1476
Molecular studies of deletions at the human steroid sulfatase locus.
@en
P2093
P2860
P304
P356
10.1073/PNAS.86.21.8477
P407
P577
1989-11-01T00:00:00Z