The R1947X mutation of NF1 causing autosomal dominant neurofibromatosis type 1 in a Chinese family
β Scribed by Qinbo Yang; Changzheng Huang; Xiaoying Yang; Yinfu Feng; Qing Wang; Mugen Liu
- Book ID
- 118651127
- Publisher
- Elsevier
- Year
- 2008
- Tongue
- Chinese
- Weight
- 253 KB
- Volume
- 35
- Category
- Article
- ISSN
- 1673-8527
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Neurofibromatosis type 1 (NF1), a genetic disorder with neuroectodermal involvement, demonstrates phenotypic overlap in some patients with Noonan syndrome (NS), ultimately resulting in the so-called neurofibromatosis-Noonan syndrome (NF-NS). A strong association of the two phenotypic traits was rece
The gene responsible for von Recklinghausen neurofibromatosis (NF1) has recently been identified, and several point mutations and deletions have been described. The availability of intron-exon boundaries of several exons of the NF1 gene facilitates the search for mutations in affected patients. We h