Large heterozygous deletions on 22q13.33 in combination with TYMP or SCO2 point mutations in two patients with mitochondrial disorders
نویسندگان
چکیده
منابع مشابه
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15 صفحه اولmodern surgical techniques in treatment of patients with cleft lip & cleft palate
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15 صفحه اولpoint mutations on mitochondrial dna in iranian patients with friedreich’s ataxia
objective mitochondrial dna (mtdna) is considered a candidate modifier factor for neuro-degenerative disorders. the most common type of ataxia is friedreich's ataxia (fa). the aim of this study was to investigate different parts of mtdna in 20 iranian fa patients and 80 age-matched controls by polymerase chain reaction (pcr) and automated dna sequencing methods to find any probable point mutati...
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ژورنال
عنوان ژورنال: Biochimica et Biophysica Acta (BBA) - Bioenergetics
سال: 2012
ISSN: 0005-2728
DOI: 10.1016/j.bbabio.2012.06.376