Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH)

Molecular Genetics and Metabolism

Volumn 79, Issue 4, 2003, Pages 272-280

  Toone, Jennifer R ^a,b   Applegarth, Derek A ^a,b   Levy, Harvey L ^c   Coulter Mackie, Marion B ^a,b   Lee, Gary ^d  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b BC CHILDREN S HOSPITAL   (Canada)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d SACRED HEART MEDICAL CENTER   (United States)

Author keywords

AMT; GLDC; Glycine; Glycine cleavage system; NKH; P protein; T protein

Indexed keywords

GLYCINE; GLYCINE CLEAVAGE SYSTEM; RESTRICTION ENDONUCLEASE; SERINE;

AMNION FLUID; ANALYTIC METHOD; ARTICLE; BIOCHEMISTRY; BRAIN DISEASE; CONTROLLED STUDY; DISEASE SEVERITY; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; INCIDENCE; LIVER; LYMPHOBLAST; MOLECULAR GENETICS; PHENOTYPE; POLYMERASE CHAIN REACTION; POPULATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN DETERMINATION; RETROSPECTIVE STUDY; STANDARD;

EID: 0042890430     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(03)00115-X     Document Type: Article

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