Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Fun...
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes
About this item
Full title
Author / Creator
Publisher
New York: Wiley Subscription Services, Inc., A Wiley Company
Journal title
Language
English
Formats
Publication information
Publisher
New York: Wiley Subscription Services, Inc., A Wiley Company
Subjects
More information
Scope and Contents
Contents
Carnitine palmitoyltransferase II (CPT II) deficiency manifests as two different clinical phenotypes: a muscular form and a hepatic form. We have investigated three nonconsanguineous Japanese patients with CPT II deficiency. Molecular analysis revealed two missense mutations, a glutamate (174)‐to‐lysine substitution (E174K) and a phenylalanine (383...
Alternative Titles
Full title
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_79886637
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_79886637
Other Identifiers
ISSN
1059-7794
E-ISSN
1098-1004
DOI
10.1002/(SICI)1098-1004(1998)11:5<377::AID-HUMU5>3.0.CO;2-E
