𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Alternative splicing of exons 29 and 30 in the neurofibromatosis type 1 gene

✍ Scribed by V. M. Park; Kathleen A. Kenwright; Dawn B. Sturtevant; Enikö Kármán Pivnick


Publisher
Springer
Year
1998
Tongue
English
Weight
107 KB
Volume
103
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Analysis of an alternatively spliced exo
✍ Ingrid Eisenbarth; Sven Hoffmeyer; Dieter Kaufmann; Günter Assum; Winfrid Krone 📂 Article 📅 1995 🏛 Springer-Verlag 🌐 English ⚖ 889 KB

Neurofibromatosis type 1 (NF1) is characterized by clinical features that primarily affect tissues derived from the neural crest (neurofibromas, caf~-aulait macules). Because aberrant regulation of alternative splicing in the NF1 gene transcript may be of functional significance, cultured melanocyte

Alternative splicing of neurofibromatosi
✍ Hiroshi Mochizuki; Toru Nishi; Janet M. Bruner; Polly S. Y. Lee; Victor A. Levin 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 496 KB

## Abstract The neurofibromatosis type 1 (__NF__1) gene encodes a 360‐residue region showing significant homology to the catalytic domains of both mammalian GTPase‐activating protein (GAP) and yeast IRA protein. The product of the GAP‐related domain of the __NF__1 gene (__NF__1‐GRD) has been shown

Characterization of six mutations in exo
✍ Upadhyaya, Meena; Osborn, Mike; Maynard, Julie; Harper, Peter 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 326 KB 👁 1 views

Neurofibromatosis type 1 ("1) is one of the most common inherited disorders, with an incidence of 1 in 3,000. We screened a total of 320 unrelated NF1 patients for mutations in exon 37 of the NF1 gene. Six independent mutations were identified, of which three are novel, and these include a recurrent

A putative exonic splicing enhancer in e
✍ C.K. Ridout; P. Keighley; S. Krywawych; R.M. Brown; G.K. Brown 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 300 KB

A nonsense mutation (c.729C>A, Y243X) in exon 7 of the PDHA1 gene in a patient with pyruvate dehydrogenase deficiency results in aberrant splicing of the primary transcript with production of stable mRNAs which lack either both exons 6 and 7 or exon 7 alone. Transfection and expression of genomic co