Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1
about
Nuclear structure in normal and Bloom syndrome cellsMolecular cloning and expression of human cDNAs encoding a novel DNA ligase IV and DNA ligase III, an enzyme active in DNA repair and recombinationHomozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinctHomozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24Structural and functional characterizations reveal the importance of a zinc binding domain in Bloom's syndrome helicaseMelanocytes and their diseasesSuccessful pregnancy in a woman with Bloom syndrome.Mutational landscape of candidate genes in familial prostate cancerThe Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.Constitutional hyperrecombinability and its consequences.Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.A locus for Fanconi anemia on 16q determined by homozygosity mapping.Terminal deletion of chromosome 15q26.1: case report and brief literature review.Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition.Molecular genetics of Bloom's syndrome.Immunodeficiency as a component of recognizable syndromes.Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells.Linkage disequilibrium between the FES, D15S127, and BLM loci in Ashkenazi Jews with Bloom syndrome.Bloom syndrome: multiple retinopathies in a chromosome breakage disorder.Low-sister-chromatid-exchange Bloom syndrome cell lines: an important new tool for mapping the basic genetic defect in Bloom syndrome and for unraveling the biology of human tumor development.Rare Genetic Diseases with Defects in DNA Repair: Opportunities and Challenges in Orphan Drug Development for Targeted Cancer Therapy
P2860
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P2860
Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1
description
1994 nî lūn-bûn
@nan
1994 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Bloom syndrome: an analysis of ...... ted to chromosome band 15q26.1
@ast
Bloom syndrome: an analysis of ...... ted to chromosome band 15q26.1
@en
Bloom syndrome: an analysis of ...... ted to chromosome band 15q26.1
@nl
type
label
Bloom syndrome: an analysis of ...... ted to chromosome band 15q26.1
@ast
Bloom syndrome: an analysis of ...... ted to chromosome band 15q26.1
@en
Bloom syndrome: an analysis of ...... ted to chromosome band 15q26.1
@nl
prefLabel
Bloom syndrome: an analysis of ...... ted to chromosome band 15q26.1
@ast
Bloom syndrome: an analysis of ...... ted to chromosome band 15q26.1
@en
Bloom syndrome: an analysis of ...... ted to chromosome band 15q26.1
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P2093
P2860
P356
P1476
Bloom syndrome: an analysis of ...... ted to chromosome band 15q26.1
@en
P2093
P2860
P304
P356
10.1073/PNAS.91.14.6669
P407
P577
1994-07-05T00:00:00Z