TY  - GEN
AU  - de Goede-Bolder,A
AU  - Cnossen,M H
AU  - Dooijes,D
AU  - van den Ouweland,A M
AU  - Niermeijer,M F
TI  - [From gene to disease; neurofibromatosis type 1]
SN  - 0028-2162
PY  - 2001///1018
KW  - Child
KW  - Chromosomes, Human, Pair 17
KW  - genetics
KW  - DNA Mutational Analysis
KW  - Diagnosis, Differential
KW  - Genes, Neurofibromatosis 1
KW  - Genetic Predisposition to Disease
KW  - Genetic Testing
KW  - methods
KW  - Genotype
KW  - Humans
KW  - Mutation
KW  - Nerve Tissue Proteins
KW  - Neurofibromatosis 1
KW  - diagnosis
KW  - Neurofibromin 1
KW  - Phenotype
KW  - Risk
N1  - Publication Type: English Abstract; Journal Article; Review
ER  -