✦ LIBER ✦

Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene

✍ Scribed by S. Verhoef; R. Vrtel; L. Bakker; I. Stolte-Dijkstra; M. Nellist; J.H. Begeer; J. Zaremba; S. Jozwiak; A.M.P. Tempelaars; D. Lindhout; D.J.J. Halley; A.M.W. van den Ouweland

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 314 KB
Volume: 11
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380110129

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation and polymorphism analysis in th

Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene

✍ J. R. Gilbert; V. Guy; A. Kumar; C. Wolpert; R. Kandt; A. Aylesworth; A. D. Rose 📂 Article 📅 1998 🏛 Springer 🌐 English ⚖ 204 KB

Exon scanning of the entire TSC2 gene fo

Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis

✍ Roberta L. Beauchamp; Ashleigh Banwell; Patrick McNamara; Matthew Jacobsen; Eric 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 282 KB 👁 2 views

## Communicated by David W. Yandell Tuberous sclerosis complex (TSC) is a dominantly inherited multisystem disorder resulting in the development of hamartomatous growths in many organs. Genetic heterogeneity has been demonstrated linking the familial cases to either TSC1 at 9q34.3, or TSC2 at 16p1

Functional assessment of variants in the

Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex

✍ Marianne Hoogeveen-Westerveld; Marjolein Wentink; Diana van den Heuvel; Melika M 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 370 KB

The effects of missense changes and small in-frame deletions and insertions on protein function are not easy to predict, and the identification of such variants in individuals at risk of a genetic disease can complicate genetic counselling. One option is to perform functional tests to assess whether

Analysis of a polymorphism in the tubero

Analysis of a polymorphism in the tuberous sclerosis (TSC2) gene does not predispose to schizophrenia

✍ Rene Przkora; P. Falkai; Andreas von Deimling; Otmar D. Wiestler; Margot Albus; 📂 Article 📅 1998 🏛 Springer-Verlag 🌐 English ⚖ 24 KB

Two NF1 mutations: Frameshift in the GAP

Two NF1 mutations: Frameshift in the GAP-related domain, and loss of two codons toward the 3′ end of the gene

✍ Corinne R. Abernathy; Steven D. Colman; Boris G. Kousseff; Margaret R. Wallace 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 770 KB

Communicated by Arthur L. Beaudet Neurofibromatosis type 1 ( N F l ) is one of the most common autosomal dominant disorders, and is due to mutations within the NFI gene on chromosome 17q11.2. Only the middle 400 amino acids of the associated protein (neurofibromin) have a known function, comprising

Regulation of cell morphology and adhesi

Regulation of cell morphology and adhesion by the tuberous sclerosis complex (TSC1/2) gene products in human kidney epithelial cells through increased E-cadherin/β-catenin activity

✍ Shaowei Li; Richard Braverman; Hongzhen Li; William C. Vass; Douglas R. Lowy; Je 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 542 KB

## Abstract We investigated the effects of overexpression of the tuberous sclerosis‐1 and ‐2 (__TSC1/2__) gene products (hamartin and tuberin, respectively) in the human kidney epithelial cell line 293 with an inducible expression system. As we had observed previously in fibroblasts, 293 cells over