Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities.
Parry, D M
Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. [electronic resource] - American journal of human genetics Sep 1996 - 529-39 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0002-9297
Adolescent
Adult
Age of Onset
Cataract--genetics
Genes, Neurofibromatosis 2--genetics
Genotype
Germ-Line Mutation--genetics
Humans
Male
Meningioma--genetics
Mutation--genetics
Neurofibromatosis 2--diagnosis
Phenotype
Polymorphism, Single-Stranded Conformational
Retinal Diseases--genetics
Skin Neoplasms--genetics
Spinal Neoplasms--genetics
Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. [electronic resource] - American journal of human genetics Sep 1996 - 529-39 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0002-9297
Adolescent
Adult
Age of Onset
Cataract--genetics
Genes, Neurofibromatosis 2--genetics
Genotype
Germ-Line Mutation--genetics
Humans
Male
Meningioma--genetics
Mutation--genetics
Neurofibromatosis 2--diagnosis
Phenotype
Polymorphism, Single-Stranded Conformational
Retinal Diseases--genetics
Skin Neoplasms--genetics
Spinal Neoplasms--genetics