Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome

1998 ◽  
Vol 75 (3) ◽  
pp. 265-272 ◽  
Author(s):  
Michel Bahuau ◽  
Claude Houdayer ◽  
Brigitte Assouline ◽  
Claudine Blanchet-Bardon ◽  
Martine Le Merrer ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Noonan Syndrome ◽  
Nonsense Mutation ◽  
Neurofibromatosis Type

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

Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome

2019 ◽  
Vol 179 (12) ◽  
pp. 2433-2446 ◽  
Author(s):  
Alana M. McNeill ◽  
Rebekah L. Hudock ◽  
Allison M. H. Foy ◽  
Ryan Shanley ◽  
Margaret Semrud‐Clikeman ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Noonan Syndrome ◽  
Emotional Functioning ◽  
Neurofibromatosis Type

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
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