An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry
about
Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinismOA1 mutations and deletions in X-linked ocular albinismPathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolismGenetic mapping of X linked ocular albinism: linkage analysis in British families.Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy.Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232.Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypesNovel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.Role of cholesterol sulfate in epidermal structure and function: lessons from X-linked ichthyosis.Neurological Manifestations of X-Linked Ichthyosis: Case Report and Review of the Literature.
P2860
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P2860
An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry
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
An Xp22 microdeletion associat ...... DNA probes and flow cytometry
@ast
An Xp22 microdeletion associat ...... DNA probes and flow cytometry
@en
An Xp22 microdeletion associat ...... DNA probes and flow cytometry
@nl
type
label
An Xp22 microdeletion associat ...... DNA probes and flow cytometry
@ast
An Xp22 microdeletion associat ...... DNA probes and flow cytometry
@en
An Xp22 microdeletion associat ...... DNA probes and flow cytometry
@nl
prefLabel
An Xp22 microdeletion associat ...... DNA probes and flow cytometry
@ast
An Xp22 microdeletion associat ...... DNA probes and flow cytometry
@en
An Xp22 microdeletion associat ...... DNA probes and flow cytometry
@nl
P2093
P2860
P1476
An Xp22 microdeletion associat ...... DNA probes and flow cytometry
@en
P2093
G van den Engh
H H Punnett
M Kistenmacher
R E Schnur
R L Nussbaum
P2860
P304
P407
P577
1989-11-01T00:00:00Z