Unpublished Variant 20061011002

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

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  • Submitted by: Dhananjaya Saranath
  • MITOMAP list of submitted variants
  • MITOMASTER allele analysis


Citing this variant:
Blok, Rien; Smeets, Bert 2003. MITOMAP mtDNA Sequence Data, https://www.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20061011002


VariantSubmissionForm edit

LastName Blok
FirstName Rien
Email 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
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
This topic: MITOMAP/Submissions > VariantSubmission > AlleleExamples > VariantSubmission > 20061011002
Topic revision: 26 Nov 2012, UnknownUser
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