Unpublished Variant 20070327005

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://mitomaster.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20070327005

Later published in: Mkaouar-Rebai, E., Chamkha, I., Kammoun, F., Kammoun, T., Aloulou, H., Hachicha, M., Triki, C. and Fakhfakh, F. (2009). "Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome." Molecular Genetics and Metabolism 97(3):179-184.


VariantSubmissionForm edit

LastName Mkaouar-Rebai
FirstName Emna
MiddleName
Email emna_mkaouar@mail2world.com
OrganizationName Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax
OrganizationURL
Country Tunisia
Address 3029 Avenue Magida Boulila, Sfax
PILastName Fakhfakh
PIFirstName Pr. Faiza
PIMiddleName
PIEmail faiza.fakhfakh@gnet.tn
OtherContributor Triki, Chahnez
PolymorphismPosition 9012
Polymorphism G
AlleleType polymorphism
NAChange T-G
AAChange syn
Locus MT-ATP6
InsertPrePosition
InsertPostPosition
Insert
DeletionPosition
DeletionLength
OtherAllele
ComplexCategory
Detection automated
SampleID MM8.7
Tissue blood
Phenotype Leigh Syndrome
Ethnicity Arabs
Origin Tunisia
Haplogroup -
Comment -
Topic revision: r1 - 26 Nov 2012, UnknownUser

POLG Server
MitoScape

This site is powered by FoswikiCopyright © by the contributing authors. All material on this collaboration platform is the property of the contributing authors.
Ideas, requests, problems regarding Foswiki? Send feedback