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Case Report: Clinical case of a giant plexiform neurofibroma of the liver in a patient with deletion of exon 1 of the NF1 gene. [PDF]

Front Oncol
Idrissova Z, Orazgaliyeva M, Kovaleva K, Seilkhanova Z, Rakhimbekova F, Zhaksybek M, Myrzamuratova D.   +6 more
europepmc   +1 more source

Molecular genetics of neurofibromatosis type 1 (NF1). [PDF]

openaire  

Molecular pathology of neurofibromatosis type 1 (NF1).

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Two independent mutations in a family with neurofibromatosis type 1 (NF1)

American Journal of Medical Genetics Part A, 1999
We report on two independent alterations of the NF1 gene in a three-generation kindred with neurofibromatosis type 1 (NF1). Using temperature gradient gel electrophoresis (TGGE) in a mutation analysis of exon 31 of the NF1 gene we detected the previously reported nonsense mutation R1947X. This C-to-T transition at codon 1947 in exon 31 is considered to
A, Klose, H, Peters, S, Hoffmeyer, A, Buske, A, Lüder, D, Hess, R, Lehmann, P, Nürnberg, S, Tinschert   +8 more
exaly   +3 more sources