Unpublished Variant 20110302020

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


Citing this variant:
Freitag, Martin; Dr. Holger Prokisch; Prof. Dr. T. Meitinger, 2011. MITOMAP mtDNA Sequence Data, https://www.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20110302020


VariantSubmissionForm edit

LastName Freitag
FirstName Martin
MiddleName
Email mtfreitag@googlemail.com
OrganizationName Humangenetik, Helmholtz-Zentrum, TU M\xFCnchen
OrganizationURL http://ihg.gsf.de/
Country Germany
Address
PILastName Prof. Dr. T. Meitinger
PIFirstName
PIMiddleName
PIEmail prokisch@helmholtz-muenchen.de
OtherContributor Dr. Holger Prokisch
Detection manual
SampleID 33354
Tissue muscle
Phenotype complex I deficiency, hepatopathy, hypertrophic cardiomyopathy, gastrointestinal bleeding, muscular hypotonia
Ethnicity
Origin
Haplogroup
Comment potentially pathogenic Insertion.
Topic revision: r1 - 22 Mar 2013, UnknownUser
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