Analysis of NF1 gene mutations in neurofibromatosis type 1 patients in Japan.

doi:10.1006/bbrc.1994.1215

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Article

Analysis of NF1 gene mutations in neurofibromatosis type 1 patients in Japan.

Biochemical and biophysical research communications - 28 Feb 1994

Hatta N, Horiuchi T, Fujita S

Abstract excerpt

Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders and is characterized by abnormalities in multiple tissues derived from the neural crest. Here, we report two novel deletion mutations of the NF1 gene from two out of 25 unrelated Japanese NF1 patients. These mutations we...

Topics

Amino Acid Sequence
Base Sequence
Humans
Japan
Molecular Sequence Data
Mutation
Neurofibromatosis 1
Neurofibromin 1
Proteins
Repetitive Sequences, Nucleic Acid
Sequence Deletion

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