𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients

✍ Scribed by Katharina Wimmer; Markus Eckart; Helga Rehder; Christa Fonatsch


Publisher
Springer
Year
2000
Tongue
English
Weight
185 KB
Volume
106
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Characterization of the somatic mutation
✍ Meena Upadhyaya; Song Han; Claudia Consoli; Elisa Majounie; Martin Horan; Nick S πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 307 KB πŸ‘ 1 views

## Communicated by Haig H. Kazazian One of the main features of neurofibromatosis type 1 (NF1) is benign neurofibromas, 10-20% of which become transformed into malignant peripheral nerve sheath tumors (MPNSTs). The molecular basis of NF1 tumorigenesis is, however, still unclear. Ninety-one tumors

A donor splice site mutation (1811+1G→C)
✍ Lidija Petreska; Svetlana Kočeva; Georgi Dimitar Efremov πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 106 KB πŸ‘ 1 views

In order to determine the molecular defect in the CFTR gene in uncharacterized CF patients from former Yugoslavia, we have employed SSCP analysis of PCR amplified fragments of exon 12 of the CFTR gene (Orita et al., 1989) (primer sequences available on request). A bandshift was detected in a DNA sam

Splicing mutations, mainly IVS6-1(G>T),
✍ J.A. Arranz; F. PiΓ±ol; L. Kozak; C. PΓ©rez-CerdΓ‘; B. Cormand; M. Ugarte; E. Riudo πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 343 KB πŸ‘ 1 views

Hereditary tyrosinemia type I (HTI) is an autosomal recessive disease characterized by a deficiency in fumarylacetoacetate hydrolase (FAH) activity. In this work, the FAH genotype was established in a group of 29 HTI patients, most of them from the Mediterranean area. We identified seven novel mutat