Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.

Krawitz, Peter M

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. [electronic resource] - Nature genetics Oct 2010 - 827-9 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1546-1718

10.1038/ng.653 doi


Adolescent
Animals
CHO Cells
Child, Preschool
Cricetinae
Cricetulus
Databases, Genetic
Exons--genetics
Family Health
Female
Genetic Predisposition to Disease
Glycosylphosphatidylinositols--metabolism
Humans
Hyperphosphatemia--genetics
Infant
Intellectual Disability--genetics
Male
Mannosyltransferases--genetics
Mutation--genetics
Open Reading Frames--genetics
Syndrome
Transfection