Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria

Journal of Inherited Metabolic Disease

Volumn 36, Issue 6, 2013, Pages 961-966

  Veiga Da Cunha, Maria ^a   Verhoeven Duif, Nanda M ^b   De Koning, Tom J ^b   Duran, Marinus ^c   Dorland, Bert ^c   Van Schaftingen, Emile ^a  

^a UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; LYASE; MESSENGER RNA; PHOSPHOHYDROXYLYSINE PHOSPHOLYASE; RECOMBINANT PROTEIN; UNCLASSIFIED DRUG;

AGXT2L2 GENE; ALLELE; ARTICLE; CASE REPORT; CELL STRAIN HEK293; CHILD; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; EHLERS DANLOS SYNDROME; ESCHERICHIA COLI; EXON; FEMALE; FIBROBLAST; GENE; GENE AMPLIFICATION; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; INBORN ERROR OF METABOLISM; NEUROLOGIC DISEASE; NONHUMAN; NUCLEOTIDE SEQUENCE; PHOSPHOHYDROXYLYSINURIA; PRESCHOOL CHILD; PROTEIN EXPRESSION; WILD TYPE;

ALANINE TRANSAMINASE; AMINO ACID SEQUENCE; CELLS, CULTURED; CHILD, PRESCHOOL; EPILEPSIES, MYOCLONIC; FEMALE; HEK293 CELLS; HUMANS; INTELLECTUAL DISABILITY; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHOSPHORUS-OXYGEN LYASES; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN FOLDING; SEQUENCE HOMOLOGY;

EID: 84888205351     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9568-9     Document Type: Article

References (9)

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