Biochemical and genetic analysis of ANK in arthritis and bone disease
Article Abstract:
A combination of radiotracer flux experiments and transgenic mice is used to characterize the activity of wild-type and mutant ANK proteins in order to understand the normal function of the ankylosis gene (ANK) protein and its role in human disease. The combined biochemical and genetic data has confirmed an important role for ANK in PPi (pyrophosphate) transport and has provided a model to describe how different types of mutations in ANKH (the mouse ortholog Ank) lead to mutant disease.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
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PLINK: a tool set for whole-genome association and population-based linkage analyses
Article Abstract:
Some of PLINK's main features are highlighted which are applicable to whole genome data sets.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
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