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Mitochondrial DNA
The Journal of DNA Mapping, Sequencing, and Analysis
Volume 24, 2013 - Issue 4
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Full Length Research Papers

Phylogenetic analysis of mitochondrial DNA in a patient with Kearns–Sayre syndrome containing a novel 7629-bp deletion

Jose Francisco Montiel-Sosa
,
María Dolores HerreroDepartment of Biochemistry and Molecular and Cellular Biology, Universidad de Zaragoza, CIBER de Enfermedades Raras (CIBERER), Zaragoza, Spain
,
Maria de Lourdes MunozCentro de Investigacion y de Estudios Avanzados del IPN, Genetics and Molecular Biology, Av. Instituto Politecnico Nacional 2508, San Pedro Zacatenco, Gustavo A. Madero 07360, MexicoCorrespondence[email protected]
,
Luis Enrique Aguirre-CampaDepartment of Neurology and Paediatrics, Centro Médico Nacional Siglo XXI, IMSS, Distrito Federal, Mexico
,
Gerardo Pérez-RamírezCentro de Investigacion y de Estudios Avanzados del IPN, Genetics and Molecular Biology, Av. Instituto Politecnico Nacional 2508, San Pedro Zacatenco, Gustavo A. Madero 07360, Mexico
,
Rubén García-RamírezDepartment of Neurology and Paediatrics, Centro Médico Nacional Siglo XXI, IMSS, Distrito Federal, Mexico
,
Eduardo Ruiz-PesiniDepartment of Biochemistry and Molecular and Cellular Biology, Universidad de Zaragoza, CIBER de Enfermedades Raras (CIBERER), Zaragoza, Spain
&
Julio MontoyaDepartment of Biochemistry and Molecular and Cellular Biology, Universidad de Zaragoza, CIBER de Enfermedades Raras (CIBERER), Zaragoza, Spain
 show all
Pages 420-431 | Received 10 Aug 2012, Accepted 28 Sep 2012, Published online: 08 Feb 2013

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Read on this site (1)

Lian Li, Rui Xing, Jiantao Cui, Wenmei Li & Youyong Lu. (2018) Investigation of frequent somatic mutations of MTND5 gene in gastric cancer cell lines and tissues. Mitochondrial DNA Part B 3:2, pages 1002-1008.
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Articles from other publishers (4)

Marcos T. Oliveira, Carolina de Bovi PontesGrzegorz L. Ciesielski. (2020) Roles of the mitochondrial replisome in mitochondrial DNA deletion formation. Genetics and Molecular Biology 43:1 suppl 1.
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Rahma Felhi, Lamia Sfaihi, Majida Charif, Valerie Desquiret-Dumas, Céline Bris, David Goudenège, Leila Ammar-Keskes, Mongia Hachicha, Dominique Bonneau, Vincent Procaccio, Pascal Reynier, Patrizia Amati-Bonneau, Guy Lenaers & Faiza Fakhfakh. (2019) Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion. Clinica Chimica Acta 488, pages 104-110.
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Marta Batllori, Marta Molero-Luis, Aida Ormazabal, Raquel Montero, Cristina Sierra, Antonia Ribes, Julio Montoya, Eduardo Ruiz-Pesini, Mar O'Callaghan, Leticia Pias, Andrés Nascimento, Francesc. Palau, Judith Armstrong, Delia Yubero, Juan D. Ortigoza-Escobar, Angels García-Cazorla & Rafael Artuch. (2018) Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience. Journal of Inherited Metabolic Disease 41:6, pages 1147-1158.
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Emna Mkaouar-Rebai, Rahma Felhi, Mouna Tabebi, Olfa Alila-Fersi, Imen Chamkha, Marwa Maalej, Marwa Ammar, Fatma Kammoun, Leila Keskes, Mongia Hachicha & Faiza Fakhfakh. (2016) Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders. Biochemical and Biophysical Research Communications 473:2, pages 578-585.
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