CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis
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[1] L. Peltonen,et al. Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease. , 1998, Human molecular genetics.
[2] R. Donnelly,et al. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. , 1997, Science.
[3] L. Peltonen,et al. Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23. , 1997, Human molecular genetics.
[4] L. Peltonen,et al. Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis. , 1996, The EMBO journal.
[5] L. Peltonen,et al. Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22. , 1996, Genomics.
[6] L. Peltonen,et al. The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population. , 1996, American journal of human genetics.
[7] J. Haines,et al. Isolation of a novel gene underlying batten disease, CLN3 , 1995, Cell.
[8] L. Peltonen,et al. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis , 1995, Nature.
[9] 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.
[10] Kay Hofmann,et al. Tmbase-A database of membrane spanning protein segments , 1993 .
[11] A Sajantila,et al. Identification of individuals by analysis of biallelic DNA markers, using PCR and solid-phase minisequencing. , 1993, American journal of human genetics.
[12] M. Kanehisa,et al. A knowledge base for predicting protein localization sites in eukaryotic cells , 1992, Genomics.
[13] L. Peltonen,et al. Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1. , 1991, Genomics.
[14] L. Peltonen,et al. Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16. , 1990, Genomics.
[15] E. Myers,et al. Basic local alignment search tool. , 1990, Journal of molecular biology.
[16] A. Syvänen,et al. Direct sequencing of affinity‐captured amplified human DNA application to the detection of apolipoprotein E polymorphism , 1989, FEBS letters.
[17] H. Sambrook. Molecular cloning : a laboratory manual. Cold Spring Harbor, NY , 1989 .
[18] P. Santavuori,et al. Neuronal ceroid-lipofuscinoses in childhood , 1988, Brain and Development.
[19] J. Opitz,et al. Batten disease: past, present, and future. , 1988, American journal of medical genetics. Supplement.
[20] J. Sambrook,et al. Molecular Cloning: A Laboratory Manual , 2001 .
[21] K. Sainio,et al. A Variant of Jansky-Bielschowsky Disease , 1982, Neuropediatrics.
[22] R. Doolittle,et al. A simple method for displaying the hydropathic character of a protein. , 1982, Journal of molecular biology.