LastName | Freitag |
FirstName | Martin |
MiddleName | |
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 | 36333 |
Tissue | muscle |
Phenotype | combined complex I + IV deficiency |
Ethnicity | |
Origin | |
Haplogroup | |
Comment | potentially pathogenic mutation due to lack of existence in 2704 controls and medium conservation. |