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

Identification of the first reported splice site mutation (IVS7‐1G→A) in the... 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Human Mutation Wiley

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

Loading next page...
 
/lp/wiley/identification-of-the-first-reported-splice-site-mutation-ivs7-1g-a-in-dnoSACA0kf
Publisher
Wiley
Copyright
Copyright © 2001 Wiley‐Liss, Inc.
ISSN
1059-7794
eISSN
1098-1004
DOI
10.1002/1098-1004(2001)17:1<76::AID-HUMU17>3.3.CO;2-S
Publisher site
See Article on Publisher Site

Abstract

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.

Journal

Human MutationWiley

Published: Jan 1, 2001

Keywords: nonketotic hyperglycinemia; NKH2; glycine; T‐protein; aminomethyltransferase; AMT; glycine cleavage system T protein; GCST

There are no references for this article.

You’re reading a free preview. Subscribe to read the entire article.


DeepDyve is your
personal research library

It’s your single place to instantly
discover and read the research
that matters to you.

Enjoy affordable access to
over 18 million articles from more than
15,000 peer-reviewed journals.

All for just $49/month

Explore the DeepDyve Library

Search

Query the DeepDyve database, plus search all of PubMed and Google Scholar seamlessly

Organize

Save any article or search result from DeepDyve, PubMed, and Google Scholar... all in one place.

Access

Get unlimited, online access to over 18 million full-text articles from more than 15,000 scientific journals.

Your journals are on DeepDyve

Read from thousands of the leading scholarly journals from SpringerNature, Elsevier, Wiley-Blackwell, Oxford University Press and more.

All the latest content is available, no embargo periods.

See the journals in your area

DeepDyve

Freelancer

DeepDyve

Pro

Price

FREE

$49/month
$360/year

Save searches from
Google Scholar,
PubMed

Create folders to
organize your research

Export folders, citations

Read DeepDyve articles

Abstract access only

Unlimited access to over
18 million full-text articles

Print

20 pages / month

PDF Discount

20% off