Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors

2004 ◽  
Vol 23 (2) ◽  
pp. 134-146 ◽  
Author(s):  
Meena Upadhyaya ◽  
Song Han ◽  
Claudia Consoli ◽  
Elisa Majounie ◽  
Martin Horan ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Malignant Tumors ◽  
Neurofibromatosis Type ◽  
Mutational Spectrum ◽  
Nf1 Gene

scholarly journals Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1

2021 ◽  
Author(s):  
Nahla Abdel‐Aziz ◽  
Ghada El‐Kamah ◽  
Rabab Khairat ◽  
Hanan Mohamed ◽  
Yehia Gad ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Mutational Spectrum ◽  
Nf1 Gene

Characterization of an intron 31 splice junction mutation in the neurofibromatosis type 1 (NF1) gene

1994 ◽  
Vol 3 (7) ◽  
pp. 1179-1181 ◽  
Author(s):  
Peter Ainsworth ◽  
David Rodenhiser ◽  
Alan Stuart ◽  
Jack Jung
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Splice Junction ◽  
Neurofibromatosis Type ◽  
Nf1 Gene

scholarly journals Identification and characterization of four novel large deletions in the human neurofibromatosis type 1 (NF1) gene

2001 ◽  
Vol 18 (6) ◽  
pp. 549-550 ◽  
Author(s):  
Li Juan Fang ◽  
Dominique Vidaud ◽  
Michel Vidaud ◽  
Jean-Paul Thirion
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Large Deletions ◽  
Nf1 Gene ◽  
Identification And Characterization

A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene

1993 ◽  
Vol 92 (4) ◽  
pp. 429-430 ◽  
Author(s):  
Conxi L�zaro ◽  
Antonia Gaona ◽  
Ganfeng Xu ◽  
Robert Weiss ◽  
Xavier Estivill
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Repeat Polymorphism ◽  
Nf1 Gene

A deletion in the 5 ′-region of the neurofibromatosis type 1 (NF1) gene

1994 ◽  
Vol 94 (1) ◽  
pp. 97-100 ◽  
Author(s):  
Sven Hoffmeyer ◽  
Günter Assum ◽  
Dieter Kaufmann ◽  
Kirsten Schwenk ◽  
Winfrid Krone
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Nf1 Gene
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