Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene
β Scribed by G. Perrin; M.A. Morris; S.E. Antonarakis; E. Boltshauser; P. Hutter
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 269 KB
- Volume
- 7
- Category
- Article
- ISSN
- 1059-7794
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π SIMILAR VOLUMES
Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders in humans with an incidence of 1 in 3500. Most of the NF1 mutations reported so far (over 240 mutations) are unique. Specific prenatal diagnosis can only be provided to familial cases by an indirect linkage analysis or to fam
## Abstract Signs of neurofibromatosis type 1 (NF1) and Noonan syndrome (NS), two distinct autosomal dominant disorders, occur together in patients reported as Watson syndrome (WS), neurofibromatosisβNoonan syndrome (NFNS), partial LEOPARD syndrome, NS with features of NF1, and NF1 with Noonanβlike