A deletion in the 5'-region of the neurofibromatosis type 1 (NF1) gene.

doi:10.1007/BF02272852

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Article

A deletion in the 5'-region of the neurofibromatosis type 1 (NF1) gene.

Human genetics - 1 Jul 1994

Hoffmeyer S, Assum G, Kaufmann D, Schwenk K, Krone W

Abstract excerpt

A new mutation, the first one close to the 5'-end of the neurofibromatosis type 1 (NF1) gene, was found when RNA preparations from various cell types of 15 NF1 patients were analysed by reverse transcription and subsequent multiplex polymerase chain reaction. This mutation removes the 84 bp of ex...

Topics

Adult
Base Sequence
DNA Primers
Female
Gene Deletion
Genes, Neurofibromatosis 1
Humans
Molecular Sequence Data
Mutation
Polymerase Chain Reaction

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