TY  - GEN
AU  - Veiga-da-Cunha,Maria
AU  - Verhoeven-Duif,Nanda M
AU  - de Koning,Tom J
AU  - Duran,Marinus
AU  - Dorland,Bert
AU  - Van Schaftingen,Emile
TI  - Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria
SN  - 1573-2665
PY  - 2014///0715
KW  - Alanine Transaminase
KW  - chemistry
KW  - Amino Acid Sequence
KW  - Cells, Cultured
KW  - Child, Preschool
KW  - Epilepsies, Myoclonic
KW  - genetics
KW  - Female
KW  - HEK293 Cells
KW  - Humans
KW  - Intellectual Disability
KW  - Models, Molecular
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Phosphorus-Oxygen Lyases
KW  - Polymorphism, Single Nucleotide
KW  - physiology
KW  - Protein Folding
KW  - Sequence Homology
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s10545-012-9568-9
ER  -