Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

Seifert, Wenke

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. [electronic resource] - Human mutation Feb 2009 - E404-20 p. digital

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

1098-1004

10.1002/humu.20886 doi


Abnormalities, Multiple--genetics
Adolescent
Adult
Alternative Splicing
Animals
Base Sequence
Child
Child, Preschool
DNA Mutational Analysis
Exons--genetics
Female
Gene Expression Profiling
Gene Expression Regulation
Haplotypes
Humans
Infant
Male
Mice
Middle Aged
Molecular Sequence Data
Pedigree
Polymorphism, Genetic
RNA Splice Sites--genetics
RNA, Messenger--genetics
Syndrome
Vesicular Transport Proteins--genetics