Ontology highlight
ABSTRACT:
SUBMITTER: Lopez Correa C
PROVIDER: S-EPMC1378038 | biostudies-other | 2000 Jun
REPOSITORIES: biostudies-other
López Correa C C Brems H H Lázaro C C Marynen P P Legius E E
American journal of human genetics 20000420 6
Neurofibromatosis type 1 is a common autosomal dominant disorder caused by mutations of the NF1 gene on chromosome 17. In only 5%-10% of cases, a microdeletion including the NF1 gene is found. We analyzed a set of polymorphic dinucleotide-repeat markers flanking the microdeletion on chromosome 17 in a group of seven unrelated families with a de novo NF1 microdeletion. Six of seven microdeletions were of maternal origin. The breakpoints of the microdeletions of maternal origin were localized in f ...[more]