Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes.

doi:10.1007/s004390050255

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Article

Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes.

Human genetics - 1 Nov 1996

Kluwe L, Bayer S, Baser M E, Hazim W, Haase W, Fünsterer C, Mautner V F

Abstract excerpt

Neurofibromatosis 2 (NF2) is an autosomal inherited disorder that predisposes carriers to nervous system tumors. To examine genotype-phenotype correlations in NF2, we performed mutation analyses and gadolinium-enhanced magnetic resonance imaging of the head and full spine in 59 unrelated NF2 pati...

Topics

DNA Mutational Analysis
Genes, Neurofibromatosis 2
Genotype
Germ-Line Mutation
Humans
Neurofibromatosis 2
Phenotype
Polymorphism, Single-Stranded Conformational

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