Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia.

Human mutation

Volumn 17, Issue 1, 2001, Pages 76-

  Toone, J R ^a   Applegarth, D A ^a   Coulter Mackie, M B ^a   James, E R ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOMETHYLTRANSFERASE; CARRIER PROTEIN; GLYCINE CLEAVAGE SYSTEM; MULTIENZYME COMPLEX; OXIDOREDUCTASE; TRANSFERASE;

ARTICLE; ENZYMOLOGY; GENETICS; HETEROZYGOTE DETECTION; HUMAN; HYPERGLYCINEMIA; INTRON; MUTATION; POLYMERASE CHAIN REACTION; RNA SPLICING;

AMINO ACID OXIDOREDUCTASES; AMINOMETHYLTRANSFERASE; CARRIER PROTEINS; HETEROZYGOTE DETECTION; HUMANS; HYDROXYMETHYL AND FORMYL TRANSFERASES; HYPERGLYCINEMIA, NONKETOTIC; INTRONS; MULTIENZYME COMPLEXES; MUTATION; POLYMERASE CHAIN REACTION; RNA SPLICE SITES; TRANSFERASES;

EID: 0035219821     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/1098-1004(2001)17:1<76::AID-HUMU17>3.0.CO;2-0     Document Type: Article

References (0)