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Your search keyword '"Single-Stranded Conformational"' showing total 2 results
Start Over Descriptor "Single-Stranded Conformational" Journal journal of medical genetics
2 results on '"Single-Stranded Conformational"'

1. A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex

Author

Khare, Leena, Strizheva, Galina D, Bailey, Julia N, Au, Kit-Sing, Northrup, Hope, Smith, Moyra, Smalley, Susan L, and Henske, Elizabeth Petri

Subjects
Biochemistry and Cell Biology, Biological Sciences, Orphan Drug, Brain Disorders, Rare Diseases, Tuberous Sclerosis, 2.1 Biological and endogenous factors, Base Sequence, Exons, GTPase-Activating Proteins, Genes, Dominant, Humans, Mental Disorders, Mutation, Missense, Polymorphism, Single-Stranded Conformational, Repressor Proteins, Sequence Homology, Tuberous Sclerosis Complex 2 Protein, Tumor Suppressor Proteins, guanosine triphosphatase activating protein, clinical article, exon, human, letter, missense mutation, priority journal, tuberous sclerosis, Medical and Health Sciences, Genetics & Heredity, Genetics, Clinical sciences
Published
2001

2. Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation

Author

Verhoef, S., Tempelaars, A.M.P. (Anita), Bakker, L. (Lida), Wang, Q. (Qing), Wessels, M.W. (Marja), Nellist, M.D. (Mark), Bakker, R. (Remco), Lindhout, D. (Dick), Halley, D.J.J. (Dicky), Ouweland, A.M.W. (Ans) van den, Slegtenhorst, M.A. (Marjon) van, Verhoef, S., Tempelaars, A.M.P. (Anita), Bakker, L. (Lida), Wang, Q. (Qing), Wessels, M.W. (Marja), Nellist, M.D. (Mark), Bakker, R. (Remco), Lindhout, D. (Dick), Halley, D.J.J. (Dicky), Ouweland, A.M.W. (Ans) van den, and Slegtenhorst, M.A. (Marjon) van

Abstract

Tuberous sclerosis complex is an inherited tumour suppressor syndrome, caused by a mutation in either the TSC1 or

Published
1999

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