Unpublished Variant 20071014001

This is a record of an observed human mtDNA variant submitted to MITOMAP


Citing this variant:
Hofste, Tom; Hol, F. 2007. MITOMAP mtDNA Sequence Data, https://www.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20071014001

Later published in:

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.


VariantSubmissionForm edit

LastName Hofste
FirstName Tom
MiddleName
Email 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
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.
Topic revision: r1 - 26 Nov 2012, UnknownUser

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