Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect.
Goubau, Christophe
Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect. [electronic resource] - Genetics in medicine : official journal of the American College of Medical Genetics Jan 2013 - 55-63 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1530-0366
10.1038/gim.2012.90 doi
Adolescent
Adult
Amino Acid Substitution
Aquaporin 3--genetics
Aquaporins--genetics
Blood Platelet Disorders--genetics
Blood Platelets--metabolism
Child
Child, Preschool
Codon
Female
Glycerol--blood
Homozygote
Humans
Infant
Male
Middle Aged
Mutation
Pedigree
Protein Transport
Young Adult
Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect. [electronic resource] - Genetics in medicine : official journal of the American College of Medical Genetics Jan 2013 - 55-63 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1530-0366
10.1038/gim.2012.90 doi
Adolescent
Adult
Amino Acid Substitution
Aquaporin 3--genetics
Aquaporins--genetics
Blood Platelet Disorders--genetics
Blood Platelets--metabolism
Child
Child, Preschool
Codon
Female
Glycerol--blood
Homozygote
Humans
Infant
Male
Middle Aged
Mutation
Pedigree
Protein Transport
Young Adult