Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene.

doi:10.1002/humu.1380040202

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Article

Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene.

Human mutation - 1 Jan 1994

Upadhyaya M, Shaw D J, Harper P S

Abstract excerpt

Neurobromatosis type 1 (NF1) is one of the commonest genetic disorders in humans. The gene for NF1 was cloned in 1990. The protein encoded by the gene (neurofibromin) has extensive sequence homology with GTPase-activating protein (GAP). Despite screening the whole coding region of the gene for la...

Topics

Genes, Neurofibromatosis 1
Humans
Mutation
Neurofibromatoses
Polymorphism, Genetic

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