TY  - JOUR
AU  - Wren, Lisa M
AU  - Jiménez-Jáimez, Juan
AU  - Al-Ghamdi, Saleh
AU  - Al-Aama, Jumana Y
AU  - Bdeir, Amnah
AU  - Al-Hassnan, Zuhair N
AU  - Kuan, Jyn L
AU  - Foo, Roger Y
AU  - Potet, Franck
AU  - Johnson, Christopher N
AU  - Aziz, Miriam C
AU  - Carvill, Gemma L
AU  - Kaski, Juan-Pablo
AU  - Crotti, Lia
AU  - Perin, Francesca
AU  - Monserrat, Lorenzo
AU  - Burridge, Paul W
AU  - Schwartz, Peter J
AU  - Chazin, Walter J
AU  - Bhuiyan, Zahurul A
AU  - George, Alfred L
PY  - 2019
DO  - 10.1161/CIRCGEN.119.002581
UR  - http://hdl.handle.net/10668/14447
T2  - Circulation. Genomic and precision medicine
AB  - CaM (calmodulin) mutations are associated with congenital arrhythmia susceptibility (calmodulinopathy) and are most often de novo. In this report, we sought to broaden the genotype-phenotype spectrum of calmodulinopathies with 2 novel calmodulin...
LA  - en
KW  - arrhythmia
KW  - calmodulin
KW  - genotype
KW  - long QT syndrome
KW  - mosaicism
KW  - Arrhythmias, Cardiac
KW  - Base Sequence
KW  - Calcium
KW  - Calmodulin
KW  - Child, Preschool
KW  - Electrophysiology
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Mosaicism
KW  - Mutation, Missense
KW  - Pedigree
TI  - Genetic Mosaicism in Calmodulinopathy.
TY  - research article
VL  - 12
ER  -