TY  - GEN
AU  - Goubau,Christophe
AU  - Jaeken,Jaak
AU  - Levtchenko,Elena N
AU  - Thys,Chantal
AU  - Di Michele,Michela
AU  - Martens,Geert A
AU  - Gerlo,Erik
AU  - De Vos,Rita
AU  - Buyse,Gunnar M
AU  - Goemans,Nathalie
AU  - Van Geet,Chris
AU  - Freson,Kathleen
TI  - Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect
SN  - 1530-0366
PY  - 2013///0612
KW  - Adolescent
KW  - Adult
KW  - Amino Acid Substitution
KW  - Aquaporin 3
KW  - genetics
KW  - Aquaporins
KW  - Blood Platelet Disorders
KW  - Blood Platelets
KW  - metabolism
KW  - Child
KW  - Child, Preschool
KW  - Codon
KW  - Female
KW  - Glycerol
KW  - blood
KW  - Homozygote
KW  - Humans
KW  - Infant
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Pedigree
KW  - Protein Transport
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/gim.2012.90
ER  -