TY  - GEN
AU  - Jenkins,Zandra A
AU  - Macharg,Alison
AU  - Chang,Cheng-Yee
AU  - van Kogelenberg,Margriet
AU  - Morgan,Tim
AU  - Frentz,Sophia
AU  - Wei,Wenhua
AU  - Pilch,Jacek
AU  - Hannibal,Mark
AU  - Foulds,Nicola
AU  - McGillivray,George
AU  - Leventer,Richard J
AU  - García-Miñaúr,Sixto
AU  - Sugito,Stuart
AU  - Nightingale,Scott
AU  - Markie,David M
AU  - Dudding,Tracy
AU  - Kapur,Raj P
AU  - Robertson,Stephen P
TI  - Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies
SN  - 1098-1004
PY  - 2018///0717
KW  - Adolescent
KW  - Brain
KW  - abnormalities
KW  - Child
KW  - Conserved Sequence
KW  - DNA Mutational Analysis
KW  - Female
KW  - Filamins
KW  - chemistry
KW  - Gastrointestinal Tract
KW  - metabolism
KW  - Gene Expression
KW  - Genetic Association Studies
KW  - Genetic Heterogeneity
KW  - Humans
KW  - Loss of Function Mutation
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Muscle, Smooth
KW  - Phenotype
KW  - Protein Isoforms
KW  - Transcription, Genetic
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.23355
ER  -