Identification and sizing of GAA trinucleotide repeat expansion, investigation for D-loop variations and mitochondrial deletions in Iranian patients with Friedreich's ataxia.

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作者： Massoud,Houshmand ^[1] ; Mehdi Shafa Shariat,Panahi ; Shahriar,Nafisi ; Akbar,Soltanzadeh ; Fawziah M,Alkandari

作者单位： Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, P.O. Box 14155-6343, Pajoohesh Blvd., Tehran-Karaj Highway, 17th km, Tehran, Iran. massoudh@nrcgeb.ac.ir ^[1]

主题词青少年(Adolescent);成年人(Adult);发病年龄(Age of Onset);碱基序列(Base Sequence);病例对照研究(Case-Control Studies);儿童(Child);DNA, 线粒体(DNA, Mitochondrial);疾病恶化(Disease Progression);女(雌)性(Female);弗里德赖希共济失调(Friedreich Ataxia);遗传变异(Genetic Variation);单倍型(Haplotypes);杂合子(Heterozygote);人类(Humans);内含子(Introns);伊朗(Iran);男(雄)性(Male);三核苷酸重复扩增(Trinucleotide Repeat Expansion)

DOI 10.1016/j.mito.2006.01.005

PMID 16581313

发布时间 2022-03-11

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Mitochondrion

2006年6卷2期

82-8页

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Identification and sizing of GAA trinucleotide repeat expansion, investigation for D-loop variations and mitochondrial deletions in Iranian patients with Friedreich's ataxia.

Mitochondrion

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Identification and sizing of GAA trinucleotide repeat expansion, investigation for D-loop variations and mitochondrial deletions in Iranian patients with Friedreich's ataxia.

Mitochondrion

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Mitochondrion

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