Ontology highlight
ABSTRACT:
SUBMITTER: Puffenberger EG
PROVIDER: S-EPMC3260153 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
PloS one 20120117 1
The Clinic for Special Children (CSC) has integrated biochemical and molecular methods into a rural pediatric practice serving Old Order Amish and Mennonite (Plain) children. Among the Plain people, we have used single nucleotide polymorphism (SNP) microarrays to genetically map recessive disorders to large autozygous haplotype blocks (mean = 4.4 Mb) that contain many genes (mean = 79). For some, uninformative mapping or large gene lists preclude disease-gene identification by Sanger sequencing. ...[more]