Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci
about
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functionsEleven densely clustered genes, six of them novel, in 176 kb of mouse t-complex DNAGenomic sequence, structural organization, molecular evolution, and aberrant rearrangement of promyelocytic leukemia zinc finger geneThe human rab GDI beta gene with long retroposon-rich introns maps to 10p15 and its pseudogene to 7p11-p13Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21The relationship between chromosome structure and function at a human telomeric regionDrosomycin-like defensin, a human homologue of Drosophila melanogaster drosomycin with antifungal activity.An oligo-screening strategy to fill gaps found during shotgun sequencing projects.The systematic functional characterisation of Xq28 genes prioritises candidate disease genes.1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis.Mutations in GDI1 are responsible for X-linked non-specific mental retardation.Ordered shotgun sequencing of a 135 kb Xq25 YAC containing ANT2 and four possible genes, including three confirmed by EST matchesSequencing multimegabase-template DNA with BigDye terminator chemistry.Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardationX chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content.Cytoprotection against mechanical forces delivered through beta 1 integrins requires induction of filamin A.Ataxia-telangiectasia locus: sequence analysis of 184 kb of human genomic DNA containing the entire ATM gene.Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats.Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]?XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28.Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families.
P2860
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P2860
Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci
description
1996 nî lūn-bûn
@nan
1996 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Long-range sequence analysis i ...... ween the RCP/GCP and G6PD loci
@ast
Long-range sequence analysis i ...... ween the RCP/GCP and G6PD loci
@en
Long-range sequence analysis i ...... ween the RCP/GCP and G6PD loci
@en-gb
Long-range sequence analysis i ...... ween the RCP/GCP and G6PD loci
@nl
type
label
Long-range sequence analysis i ...... ween the RCP/GCP and G6PD loci
@ast
Long-range sequence analysis i ...... ween the RCP/GCP and G6PD loci
@en
Long-range sequence analysis i ...... ween the RCP/GCP and G6PD loci
@en-gb
Long-range sequence analysis i ...... ween the RCP/GCP and G6PD loci
@nl
prefLabel
Long-range sequence analysis i ...... ween the RCP/GCP and G6PD loci
@ast
Long-range sequence analysis i ...... ween the RCP/GCP and G6PD loci
@en
Long-range sequence analysis i ...... ween the RCP/GCP and G6PD loci
@en-gb
Long-range sequence analysis i ...... ween the RCP/GCP and G6PD loci
@nl
P2093
P356
P1476
Long-range sequence analysis i ...... ween the RCP/GCP and G6PD loci
@en
P2093
A Ciccodicola
D Schlessinger
P304
P356
10.1093/HMG/5.5.659
P407
P577
1996-05-01T00:00:00Z