Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family
β Scribed by Mitsuko Nakashima; Motoi Nakano; Akiyoshi Hirano; Tatsuya Kishino; Shinji Kondoh; Nobutomo Miwa; Norio Niikawa; Koh-ichiro Yoshiura
- Publisher
- Nature Publishing Group
- Year
- 2007
- Tongue
- English
- Weight
- 710 KB
- Volume
- 53
- Category
- Article
- ISSN
- 1435-232X
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract ## Objective The genetic contributions to the multifactorial disorder osteoarthritis (OA) have been increasingly recognized. The goal of the current study was to use OAβrelated biomarkers of severity and disease burden as quantitative traits to identify genetic susceptibility loci for
The phenotype in the rd mouse is similar to the clinical presentation of Leber congenital amaurosis (LCA) in humans. Recently a nonsense mutation in the beta subunit of the cGMP phosphodiesterase (Pdeb) gene has been defined as the cause for the rd phenotype in the mouse and has raised the question
Variance components models were used to analyze total IgE levels in families ascertained though the Collaborative Study of the Genetics of Asthma (CSGA) using a genome-wide array of polymorphic markers. While IgE levels are known to be associated with clinical asthma and recognized to be under stron