Ontology highlight
ABSTRACT:
SUBMITTER: Nakatsukasa M
PROVIDER: S-EPMC3084224 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
Nakatsukasa Mina M Kawasaki Satoshi S Yamasaki Kenta K Fukuoka Hideki H Matsuda Akira A Nishida Kohji K Kinoshita Shigeru S
Molecular vision 20110419
<h4>Purpose</h4>To report two novel mutation of the tumor-associated calcium signal transducer 2 (TACSTD2) gene in 3 Japanese patients with gelatinous drop-like corneal dystrophy (GDLD).<h4>Methods</h4>Genomic DNAs were extracted from the peripheral blood of 3 Japanese families. The coding region of TACSTD2 was amplified by polymerase chain reaction (PCR) and subjected to direct sequencing analysis. Plasmid vectors harboring normal and mutated TACSTD2 were transfected to the immortalized human c ...[more]