TY  - GEN
AU  - Majer,Filip
AU  - Piherova,Lenka
AU  - Reboun,Martin
AU  - Stara,Veronika
AU  - Pelak,Ondrej
AU  - Norambuena,Patricia
AU  - Stranecky,Viktor
AU  - Krebsova,Alice
AU  - Vlaskova,Hana
AU  - Dvorakova,Lenka
AU  - Kmoch,Stanislav
AU  - Kalina,Tomas
AU  - Kubanek,Milos
AU  - Sikora,Jakub
TI  - LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
SN  - 1552-4833
PY  - 2019///0925
KW  - Adolescent
KW  - Adult
KW  - Base Sequence
KW  - Child
KW  - DNA Copy Number Variations
KW  - genetics
KW  - Exons
KW  - Family
KW  - Female
KW  - Glycogen Storage Disease Type IIb
KW  - Heterozygote
KW  - Humans
KW  - Lysosomal-Associated Membrane Protein 2
KW  - Male
KW  - Pedigree
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.40430
ER  -