LastName | Blok |
FirstName | Rien |
rien.blok@gen.unimaas.nl | |
OrganizationName | Clinical Genetics, University Hospital Maastricht |
Country | the Netherlands |
Address | P. Debyelaan 1, 6202 AZ, Maastricht |
PILastName | Smeets |
PIFirstName | Bert |
PIEmail | bert.smeets@molcelb.unimaas.nl |
PolymorphismPosition | 13511 |
Polymorphism | T |
AlleleType | polymorphism |
NAChange | A-T |
AAChange | K-M |
Locus | MT-ND5 |
Detection | DHPLC |
SampleID | #6.6.0.4 |
Tissue | muscle |
Phenotype | Leigh Syndrome |
Ethnicity | Caucasian |
Origin | Netherlands |
Haplogroup | unknown |
Comment | Complex I, III reduced in muscle |