TY  - GEN
AU  - Seifert,Wenke
AU  - Holder-Espinasse,Muriel
AU  - Kühnisch,Jirko
AU  - Kahrizi,Kimia
AU  - Tzschach,Andreas
AU  - Garshasbi,Masoud
AU  - Najmabadi,Hossein
AU  - Walter Kuss,Andreas
AU  - Kress,Wolfram
AU  - Laureys,Geneviève
AU  - Loeys,Bart
AU  - Brilstra,Eva
AU  - Mancini,Grazia M S
AU  - Dollfus,Hélène
AU  - Dahan,Karin
AU  - Apse,Kira
AU  - Hennies,Hans Christian
AU  - Horn,Denise
TI  - Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1
SN  - 1098-1004
PY  - 2009///0410
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adolescent
KW  - Adult
KW  - Alternative Splicing
KW  - Animals
KW  - Base Sequence
KW  - Child
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Exons
KW  - Female
KW  - Gene Expression Profiling
KW  - Gene Expression Regulation
KW  - Haplotypes
KW  - Humans
KW  - Infant
KW  - Male
KW  - Mice
KW  - Middle Aged
KW  - Molecular Sequence Data
KW  - Pedigree
KW  - Polymorphism, Genetic
KW  - RNA Splice Sites
KW  - RNA, Messenger
KW  - Syndrome
KW  - Vesicular Transport Proteins
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.20886
ER  -