The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.
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[1] J. Kere,et al. Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium. , 1995, American journal of human genetics.
[2] L. Peltonen,et al. Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus. , 1995, American journal of human genetics.
[3] I. Järvelä,et al. Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes. , 1995, American journal of human genetics.
[4] J. Terwilliger. A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci. , 1995, American journal of human genetics.
[5] N. Risch,et al. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population , 1995, Nature Genetics.
[6] L. Jorde. Linkage disequilibrium as a gene-mapping tool. , 1995, American journal of human genetics.
[7] L. Peltonen,et al. Infantile Onset Spinocerebellar Ataxia Represents an Allelic Disease Distinct from Other Hereditary Ataxias , 1994, Pediatric Research.
[8] L. Peltonen,et al. Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses. , 1994, American journal of human genetics.
[9] Cécile Fizames,et al. The 1993–94 Généthon human genetic linkage map , 1994, Nature Genetics.
[10] X. Estivill,et al. The origin of the major cystic fibrosis mutation (ΔF508) in European populations , 1994, Nature Genetics.
[11] L. Peltonen,et al. A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-Sjögren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome 16. , 1994, Genomics.
[12] P. Pontarotti,et al. Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE) , 1994, American journal of human genetics.
[13] R. Tanguay,et al. Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I. , 1994, Human molecular genetics.
[14] R. Richards,et al. Familial Mediterranean fever (FMF) in Moroccan Jews: demonstration of a founder effect by extended haplotype analysis. , 1993, American journal of human genetics.
[15] L. Peltonen,et al. Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis. , 1993, Genomics.
[16] Eric Lander,et al. Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland , 1992, Nature Genetics.
[17] L. Peltonen,et al. Spectrum of mutations in aspartylglucosaminuria. , 1991, Proceedings of the National Academy of Sciences of the United States of America.
[18] I. Järvelä. Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus. , 1991, Genomics.
[19] E. Sohar,et al. Familial Mediterranean fever. , 1955, Klinische Padiatrie.
[20] L. Tsui,et al. Identification of the cystic fibrosis gene: genetic analysis. , 1989, Science.
[21] K. Sainio,et al. A Variant of Jansky-Bielschowsky Disease , 1982, Neuropediatrics.
[22] J. Perheentupa,et al. Hereditary diseases in Finland; rare flora in rare soul. , 1973, Annals of clinical research.