Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa
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Fanconi anaemiaUpdate of the human and mouse Fanconi anemia genesFanconi anemia pathway defects in inherited and sporadic cancersCurrent diagnosis of inherited bone marrow failure syndromes.Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes.Founder mutations among the Dutch.FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients.A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba MennonitesDiagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger SequencingThe concept and practice of Fanconi Anemia: from the clinical bedside to the laboratory benchFanconi anaemia genes and susceptibility to cancer.High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis.Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution.Fanconi anemia - learning from children.How I manage patients with Fanconi anaemia.A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population.Correlations between long inverted repeat (LIR) features, deletion size and distance from breakpoint in human gross gene deletions.Myeloid lineage-selective growth of revertant cells in Fanconi anaemia.Ocular manifestations and visual functions in patients with Fanconi anaemia.Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.Molecular characterization of three novel Fanconi anemia mutations in Israeli Arabs.Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia.A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi Anemia in the United States and Israel
P2860
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P2860
Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa
description
2001 nî lūn-bûn
@nan
2001 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Molecular and genealogical evi ...... ner population of South Africa
@ast
Molecular and genealogical evi ...... ner population of South Africa
@en
Molecular and genealogical evi ...... ner population of South Africa
@nl
type
label
Molecular and genealogical evi ...... ner population of South Africa
@ast
Molecular and genealogical evi ...... ner population of South Africa
@en
Molecular and genealogical evi ...... ner population of South Africa
@nl
prefLabel
Molecular and genealogical evi ...... ner population of South Africa
@ast
Molecular and genealogical evi ...... ner population of South Africa
@en
Molecular and genealogical evi ...... ner population of South Africa
@nl
P2093
P2860
P356
P1476
Molecular and genealogical evi ...... ner population of South Africa
@en
P2093
A J Tipping
E Gluckman
N V Morgan
R A Gibson
T de Ravel
P2860
P304
P356
10.1073/PNAS.091402398
P407
P577
2001-05-08T00:00:00Z