A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome

نویسندگان

چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome.

We report on a novel frameshift mutation in the mtDNA gene encoding cytochrome c oxidase (COX) subunit III. The proband is an 11-year-old girl with a negative family history and an apparently healthy younger brother. Since 4 years of age, she has developed a progressive spastic paraparesis associated with ophthalmoparesis and moderate mental retardation. The presence of severe lactic acidosis a...

متن کامل

from linguistics to literature: a linguistic approach to the study of linguistic deviations in the turkish divan of shahriar

chapter i provides an overview of structural linguistics and touches upon the saussurean dichotomies with the final goal of exploring their relevance to the stylistic studies of literature. to provide evidence for the singificance of the study, chapter ii deals with the controversial issue of linguistics and literature, and presents opposing views which, at the same time, have been central to t...

15 صفحه اول

wuthering heights and the concept of marality/a sociological study of the novel

to discuss my point, i have collected quite a number of articles, anthologies, and books about "wuthering heights" applying various ideas and theories to this fantastic story. hence, i have come to believe that gadamer and jauss are rightful when they claim that "the individaul human mind is the center and origin of all meaning," 3 that reading literature is a reader-oriented activity, that it ...

15 صفحه اول

a synchronic and diachronic approach to the change route of address terms in the two recent centuries of persian language

terms of address as an important linguistics items provide valuable information about the interlocutors, their relationship and their circumstances. this study was done to investigate the change route of persian address terms in the two recent centuries including three historical periods of qajar, pahlavi and after the islamic revolution. data were extracted from a corpus consisting 24 novels w...

15 صفحه اول

a swot analysis of the english program of a bilingual school in iran

با توجه به جایگاه زبان انگلیسی به عنوان زبانی بین المللی و با در نظر گرفتن این واقعیت که دولت ها و مسئولان آموزش و پرورش در سراسر جهان در حال حاضر احساس نیاز به ایجاد موقعیتی برای کودکان جهت یاد گیری زبان انگلیسی درسنین پایین در مدارس دو زبانه می کنند، تحقیق حاضر با استفاده از مدل swot (قوت ها، ضعف ها، فرصتها و تهدیدها) سعی در ارزیابی مدرسه ای دو زبانه در ایران را دارد. جهت انجام این تحقیق در م...

15 صفحه اول

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Human Molecular Genetics

سال: 2000

ISSN: 1460-2083

DOI: 10.1093/hmg/9.18.2733