Jonckheere, A. I., Hogeveen, M., Nijtmans, L. G., van den Brand, M. A., Janssen, A. J., Diepstra, J. H., van den Brandt, F. C., van den Heuvel, L. P., Hol, F. A., Hofste, T. G., Kapusta, L., Dillmann, U., Shamdeen, M. G., Smeitink, J. A. and Rodenburg, R. J. (2008). "A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy." Journal of Medical Genetics 45(3):129-133.
LastName | Hofste |
FirstName | Tom |
MiddleName | |
T.Hofste@antrg.umcn.nl | |
OrganizationName | The Radboud University Nijmegen Medical Centre |
OrganizationURL | |
Country | USA |
Address | |
PILastName | Hol |
PIFirstName | F. |
PIMiddleName | |
PIEmail | f.hol@antrg.umcn.nl |
OtherContributor | |
PolymorphismPosition | 8529 |
Polymorphism | A |
AlleleType | polymorphism |
NAChange | G-A |
AAChange | W-Ter |
Locus | MT-ATP8 |
InsertPrePosition | |
InsertPostPosition | |
Insert | |
DeletionPosition | |
DeletionLength | |
OtherAllele | |
ComplexCategory | |
Detection | manual |
SampleID | DNA05-03.8.1.2 |
Tissue | blood |
Phenotype | Apical HCM |
Ethnicity | . |
Origin | . |
Haplogroup | - |
Comment | This is a mutation! The article is out in a few weeks. |