Zobrazeno 1 - 5
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pro vyhledávání: '"P H Arn"'
Publikováno v:
American journal of medical genetics. 85(1)
Genetic deficiency of lysosomal acid alpha-glucosidase (acid maltase) results in the autosomal recessive disorder glycogen storage disease type II (GSDII) in which intralysosomal accumulation of glycogen primarily affects function of skeletal and car
Autor:
Charles E. Schwartz, Margaret R. Wallace, C. R. Abernathy, V. T. Ho, Steven D. Colman, L Weiss, Sonja A. Rasmussen, Robert A. Saul, P H Arn
Publikováno v:
Journal of medical genetics. 35(6)
A set of neurofibromatosis type 1 (NF1) patients was screened for large NF1 gene deletions by comparing patient and parent genotypes at 10 intragenic polymorphic loci. Of 67 patient/parent sets (47 new mutation patients and 20 familial cases), five (
Publikováno v:
American journal of medical genetics. 77(3)
Deficiency of methylenetetrahydrofolate reductase (MTHFR) is associated with a variable phenotype that includes mental retardation, gait abnormalities, and seizures. Many of the same clinical findings are also seen in patients with Angelman syndrome.
Publikováno v:
Molecular biologymedicine. 7(4)
Studies of banding induced by restriction enzymes may provide insight into banding mechanisms and chromosome structure. We examined whether or not the sizes of chromosome-specific alphoid DNA fragments created by digestion with various restriction en
Publikováno v:
Progress in clinical and biological research. 318