Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by mutations in the NF1 gene. In the present study, a total of 55 unrelated NF1 patients were screened for mutations in the GAP-related domain/GRD (exons 20-27a) by single-strand conformation polymorphism (SSCP). Four diff...
Gorde:
| Egile Nagusiak: | , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Sociedade Brasileira de Genética
2004-01-01
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| Saila: | Genetics and Molecular Biology |
| Gaiak: | |
| Sarrera elektronikoa: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000300003 |
| Etiketak: |
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