Ontology highlight
ABSTRACT:
SUBMITTER: Purandare SM
PROVIDER: S-EPMC1915086 | biostudies-other | 1996 Jul
REPOSITORIES: biostudies-other
Purandare S M SM Cawthon R R Nelson L M LM Sawada S S Watkins W S WS Ward K K Jorde L B LB Viskochil D H DH
American journal of human genetics 19960701 1
Six polymorphisms across the NF1 gene have been adapted for genotyping through application of PCR-based assays. Three exon-based polymorphisms--at positions 702, 2034, and 10647 in the NF1 cDNA--were genotyped by mutagenically separated PCR (MS-PCR). A fourth polymorphism, DV1.9, is an L1 insertion element in intron 30, and the other two polymorphisms, GXAlu and EVI-20, are short tandem repeats in intron 27b. All the polymorphisms were evaluated in a cohort of 110 CEPH individuals who previously ...[more]