Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients

2002 ◽  
Vol 20 (1) ◽  
pp. 74-75 ◽  
Author(s):  
Paola Origone ◽  
Alessandro De Luca ◽  
Carlo Bellini ◽  
Anna Buccino ◽  
Rita Mingarelli ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Novel Mutations ◽  
Nf1 Gene

scholarly journals Novel mutations involving the NF1 gene coding sequence in neurofibromatosis type 1 patients from Taiwan

2003 ◽  
Vol 48 (10) ◽  
pp. 545-549 ◽  
Author(s):  
Ming-Tzen Liu ◽  
Jih-Shyun Su ◽  
Chun-Yu Huang ◽  
Shih-Feng Tsai
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Novel Mutations ◽  
Coding Sequence ◽  
Gene Coding ◽  
Nf1 Gene

scholarly journals Two novel mutations of NF1 gene identified in Chinese patients with severe neurofibromatosis type 1

2020 ◽  
Vol 86 (1) ◽  
pp. 76
Author(s):  
Yunqing Ren ◽  
Yuxin Zheng ◽  
Guiying Qiu ◽  
Huatuo Dai ◽  
Chengyao Zhu ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Chinese Patients ◽  
Novel Mutations ◽  
Nf1 Gene

scholarly journals Identification of two novel mutations (1448delA and Q682X) in the NF1 gene and analysis for nonsense mutations in patients with neurofibromatosis type 1

1998 ◽  
Vol 11 (S1) ◽  
pp. S47-S49
Author(s):  
Takahiko Horiuchi ◽  
Nobuaki Hatta ◽  
Ichiro Watanabe ◽  
Yuzuru Kobayashi ◽  
Margaret R. Wallace ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Novel Mutations ◽  
Nonsense Mutations ◽  
Nf1 Gene

Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene

1996 ◽  
Vol 7 (2) ◽  
pp. 172-175 ◽  
Author(s):  
G. Perrin ◽  
M.A. Morris ◽  
S.E. Antonarakis ◽  
E. Boltshauser ◽  
P. Hutter
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Mrna Splicing ◽  
Novel Mutations ◽  
Nf1 Gene

Six novel mutations in the neurofibromatosis type 1 (NF1) gene

1997 ◽  
Vol 10 (3) ◽  
pp. 248-250 ◽  
Author(s):  
M Upadhyaya ◽  
J Maynard ◽  
M Osborn ◽  
PS Harper
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Novel Mutations ◽  
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
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