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1
المؤلفون: Liina Lonka, RM Gardiner, Ruth E Williams, JD Sharp, Wayne A. Mitchell, Anna-Elina Lehesjoki, RB Wheeler, Sara E. Mole, U. S. Ranta, S. L. Bate
المصدر: European Journal of Paediatric Neurology. 5:21-27
مصطلحات موضوعية: Turkish population, Turkey, Genetic Linkage, DNA Mutational Analysis, Biology, 03 medical and health sciences, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, Genetic linkage, medicine, Humans, Missense mutation, Disease-causing Mutation, Child, Alleles, DNA Primers, 030304 developmental biology, Family Health, Genetics, 0303 health sciences, Tripeptidyl-Peptidase 1, Homozygote, Haplotype, Chromosome Mapping, Infant, General Medicine, medicine.disease, Disease gene identification, Haplotypes, CLN8, Child, Preschool, Pediatrics, Perinatology and Child Health, Neuronal ceroid lipofuscinosis, Neurology (clinical), 030217 neurology & neurosurgery, Microsatellite Repeats
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2
المؤلفون: RB Wheeler, RM Gardiner, Brian D. Lake, JD Sharp, Wayne A. Mitchell, Ruth E Williams, S. L. Bate
المصدر: Molecular genetics and metabolism. 66(4)
مصطلحات موضوعية: Genetics, Male, Genotype, Endocrinology, Diabetes and Metabolism, Curvilinear bodies, DNA Mutational Analysis, Locus (genetics), Biology, Disease gene identification, Biochemistry, Phenotype, Pedigree, Endocrinology, Neuronal Ceroid-Lipofuscinoses, Humans, Female, Late infantile neuronal ceroid lipofuscinosis, Molecular Biology, Gene, Microsatellite Repeats