A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene.
about
WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myelomaMapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlationFrequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome.Wolf-Hirschhorn and Pitt-Rogers-Danks syndromes caused by overlapping 4p deletions.Promiscuous translocations into immunoglobulin heavy chain switch regions in multiple myeloma.The genomic sequences bound to special AT-rich sequence-binding protein 1 (SATB1) in vivo in Jurkat T cells are tightly associated with the nuclear matrix at the bases of the chromatin loops.An arrayed bacteriophage P1 genomic library of Pneumocystis carinii.A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome.Delimiting the Wolf-Hirschhorn syndrome critical region to 750 kilobase pairs.The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis.A simple genetic basis for a complex psychological trait in laboratory mice.High resolution localization of recombination hot spots using sperm typing.Molecular detection of new mutations, resolution of ambiguous results and complex genetic counseling issues in Huntington disease.History of genetic disease: the molecular genetics of Huntington disease - a history.Genomic sequence sampling: a strategy for high resolution sequence-based physical mapping of complex genomes.Effect of chronic chromium picolinate in animal models of anxiety and memory.Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.
P2860
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P2860
A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene.
description
1993 nî lūn-bûn
@nan
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
1993年论文
@zh
1993年论文
@zh-cn
name
A cosmid contig and high resol ...... the Huntington's disease gene.
@ast
A cosmid contig and high resol ...... the Huntington's disease gene.
@en
type
label
A cosmid contig and high resol ...... the Huntington's disease gene.
@ast
A cosmid contig and high resol ...... the Huntington's disease gene.
@en
prefLabel
A cosmid contig and high resol ...... the Huntington's disease gene.
@ast
A cosmid contig and high resol ...... the Huntington's disease gene.
@en
P2093
P2860
P356
P1433
P1476
A cosmid contig and high resol ...... the Huntington's disease gene.
@en
P2093
Baxendale S
Hummerich H
MacDonald ME
Zehetner G
P2860
P2888
P304
P356
10.1038/NG0693-181
P407
P577
1993-06-01T00:00:00Z