Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland
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ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORFDisease gene mapping in isolated human populations: the example of FinlandPhenylketonuria in a low incidence population: molecular characterisation of mutations in FinlandHaplotypes in the dystrophin DNA segment point to a mosaic origin of modern human diversityA founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cMA genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndromeAssignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mappingAtaxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 familiesDefined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinosesThe genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French CanadiansLysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mappingA haplotype map of the human genomeAssignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysisAn autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1Genetic basis of sitosterolemiaRecent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews.Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communitiesLikelihood analysis of disequilibrium mapping, and related problems.Genetic analysis of type 1 diabetes using whole genome approachesGenetic mapping in human diseaseScore tests for association between traits and haplotypes when linkage phase is ambiguousPrediction of total genetic value using genome-wide dense marker mapsHigh-Resolution Physical and Transcriptional Mapping of the Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy Locus on Chromosome 21q22.3 by FISHMining SNPs from EST databases.Analysis of genetic linkage data for Mendelian traits.Detecting population growth, selection and inherited fertility from haplotypic data in humans.Disentangling linkage disequilibrium and linkage from dense single-nucleotide polymorphism trio data.Linkage disequilibrium and genome-wide association mapping in tetraploid wheat (Triticum turgidum L.).Linkage disequilibrium interval mapping of quantitative trait loci.Quality assessment parameters for EST-derived SNPs from catfish.Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers.Cartilage-hair hypoplasia.Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese villageMolecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism
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Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland
description
im November 1992 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в листопаді 1992
@uk
name
Linkage disequilibrium mapping ...... astrophic dysplasia in Finland
@en
Linkage disequilibrium mapping ...... astrophic dysplasia in Finland
@nl
type
label
Linkage disequilibrium mapping ...... astrophic dysplasia in Finland
@en
Linkage disequilibrium mapping ...... astrophic dysplasia in Finland
@nl
prefLabel
Linkage disequilibrium mapping ...... astrophic dysplasia in Finland
@en
Linkage disequilibrium mapping ...... astrophic dysplasia in Finland
@nl
P2093
P2860
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P1433
P1476
Linkage disequilibrium mapping ...... astrophic dysplasia in Finland
@en
P2093
A de la Chapelle
J Hästbacka
P Sistonen
P2860
P2888
P304
P356
10.1038/NG1192-204
P407
P50
P577
1992-11-01T00:00:00Z
P6179
1049816422