Premium
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
Author(s) -
Toone Jennifer R.,
Applegarth Derek A.,
CoulterMackie Marion B.,
James Erick R.
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/1098-1004(2001)17:1<76::aid-humu17>3.0.co;2-0
Subject(s) - hyperglycinemia , biology , genetics , gene , splice site mutation , splice , cleavage (geology) , rna splicing , glycine , bioinformatics , amino acid , rna , paleontology , fracture (geology)
A novel splice site mutation (IVS7‐1G→A) in the T‐protein gene (aminomethyltransferase, or AMT) of the glycine cleavage enzyme complex was found in a patient with nonketotic hyperglycinemia (NKH). A PCR/restriction enzyme method to detect this mutation was used to screen 100 NKH alleles and identified the mutation in three unrelated families. © 2001 Wiley‐Liss, Inc.