Unpublished Variant 20070327010

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/20070327010

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 12609
Polymorphism C
AlleleType polymorphism
NAChange T-C
AAChange syn
Locus MT-ND5
InsertPrePosition
InsertPostPosition
Insert
DeletionPosition
DeletionLength
OtherAllele
ComplexCategory
Detection automated
SampleID MM4.4
Tissue blood
Phenotype Leigh Syndrome
Ethnicity Arabs
Origin Tunisia
Haplogroup -
Comment -
Topic revision: r1 - 26 Nov 2012, UnknownUser

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