TY  - GEN
AU  - Tiffin,Heather R
AU  - Jenkins,Zandra A
AU  - Gray,Mary J
AU  - Cameron-Christie,Sophia R
AU  - Eaton,Jennifer
AU  - Aftimos,Salim
AU  - Markie,David
AU  - Robertson,Stephen P
TI  - Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype
SN  - 1364-6753
PY  - 2013///1218
KW  - Adult
KW  - Aged
KW  - Child
KW  - Female
KW  - Humans
KW  - INDEL Mutation
KW  - genetics
KW  - Intracellular Signaling Peptides and Proteins
KW  - LIM Domain Proteins
KW  - Male
KW  - Mitogen-Activated Protein Kinases
KW  - Muscle Proteins
KW  - Muscular Dystrophy, Emery-Dreifuss
KW  - Pedigree
KW  - Phenotype
KW  - Protein Isoforms
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s10048-013-0359-8
ER  -