Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1

1991 ◽  
Vol 88 (2) ◽  
Author(s):  
Xavier Estivill ◽  
Conxi L�zaro ◽  
Teresa Casals ◽  
Anna Ravella
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Nonsense Mutation ◽  
Neurofibromatosis Type ◽  
Nf1 Gene

scholarly journals Gonosomal Mosaicism for a Nonsense Mutation (R1947X) in the NF1 Gene in Segmental Neurofibromatosis Type 1

2005 ◽  
Vol 125 (3) ◽  
pp. 463-466 ◽  
Author(s):  
Claudia Consoli ◽  
Celia Moss ◽  
Stuart Green ◽  
Debra Balderson ◽  
David N. Cooper ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Nonsense Mutation ◽  
Neurofibromatosis Type ◽  
Nf1 Gene

scholarly journals A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient

2000 ◽  
Vol 45 (2) ◽  
pp. 84-85 ◽  
Author(s):  
Kyoung Chan Park ◽  
Hyun Ok Choi ◽  
Kee Ho Park ◽  
Kyu Han Kim ◽  
Hee Chul Eun
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Nonsense Mutation ◽  
Neurofibromatosis Type ◽  
Korean Patient ◽  
Nf1 Gene

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

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

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

Evidence of DNA methylation in the neurofibromatosis type 1 (NF1) gene region of 17q11.2

1993 ◽  
Vol 2 (4) ◽  
pp. 439-444 ◽  
Author(s):  
David I. Rodenhiser ◽  
Marion B. Coulter-Mackie ◽  
Shiva M. Singh
Keyword(s):  
Dna Methylation ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Gene Region ◽  
Nf1 Gene

A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1

2010 ◽  
Vol 27 (4) ◽  
pp. 635-638
Author(s):  
Anna Lia Gabriele ◽  
Martino Ruggieri ◽  
Alessandra Patitucci ◽  
Angela Magariello ◽  
Francesca Luisa Conforti ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Italian Family ◽  
Nf1 Gene
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