Unpublished Variant 20070724004

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

Citing this variant:
Mkaouar-Rebai, Emna; Triki, Chahnez; Fakhfakh, Pr. Faiza 2007. MITOMAP mtDNA Sequence Data, https://www.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20070724004

Later published in: Mkaouar-Rebai, E., Chaari, W., Younes, S., Bousoffara, R., Sfar, M. T. and Fakhfakh, F. (2009). "Maternally inherited Leigh syndrome: T8993G mutation in a Tunisian family." Pediatric Neurology 40(6):437-442.

VariantSubmissionForm edit

LastName Mkaouar-Rebai
FirstName Emna
Email emna_mkaouar@mail2world.com
OrganizationName Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax
Country Tunisia
Address 3029 Avenue Magida Boulila %Sfax
PILastName Fakhfakh
PIFirstName Pr. Faiza
PIEmail faiza.fakhfakh@gnet.tn
OtherContributor Triki, Chahnez
Detection automated
SampleID MM1.3.7, MM1.5.5, MM1.5.6
Tissue blood
Phenotype Leigh Syndrome
Ethnicity Caucasian/Africain
Origin Tunisia
Haplogroup -
Comment -
This topic: MITOMAP/Submissions > VariantSubmission > AlleleExamples > VariantSubmission > 20070724004
Topic revision: 26 Nov 2012, UnknownUser
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