(Q74221190)
Statements
Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome (English)
Bahuau M
Houdayer C
Assouline B
Blanchet-Bardon C
Le Merrer M
Giraud S
Récan D
Lakhdar H
Vidaud M