Ontology highlight
ABSTRACT:
SUBMITTER: Firasat S
PROVIDER: S-EPMC2579935 | biostudies-literature | 2008
REPOSITORIES: biostudies-literature
Firasat Sabika S Riazuddin S Amer SA Khan Shaheen N SN Riazuddin Sheikh S
Molecular vision 20081103
<h4>Purpose</h4>To identify the disease-causing mutations in three consanguineous Pakistani families with multiple members affected by primary congenital glaucoma.<h4>Methods</h4>Blood samples were collected, and DNA was extracted. Linkage analysis for reported primary congenital glaucoma loci was performed using closely spaced polymorphic microsatellite markers on genomic DNA from affected and unaffected family members. All coding exons, the exon-intron boundaries, and the 5' untranslated regio ...[more]