Frequency and spectrum of hemoglobinopathy mutations in a Uruguayan pediatric population

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

Frequency and spectrum of hemoglobinopathy mutations in a Uruguayan pediatric population

Hemoglobinopathies are the most common recessive diseases worldwide but their prevalence in Uruguay has not been investigated. In this study, 397 unrelated outpatient children from the Pereira Rosell Hospital Center (CHPR), as well as 31 selected patients with microcytic anemia and 28 β-thalassemia carriers were analyzed for hemoglobinopathies by using biochemical and molecular biology methods....

متن کامل

Prevalence of EGFR Mutations in Lung Cancer in Uruguayan Population

BACKGROUND Incorporation of molecular analysis of the epidermal growth factor receptor (EGFR) gene into routine clinical practice represents a milestone for personalized therapy of the non-small-cell lung cancer (NSCLC). However, the genetic testing of EGFR mutations has not yet become a routine clinical practice in developing countries. In view of different prevalence of such mutations among d...

متن کامل

: metadiscourse in introduction sections of applied linguistics and physics research articles: exploring variation in frequency and type

abstract in written mode of language, metadiscourse markers are used commonly to help writers in general and academic writers in particular to produce coherent and professional texts. the purpose of the present study was to compare introduction sections of applied linguistics and physics articles regarding their use of interactive and interactional metadiscourse markers based on the model pro...

15 صفحه اول

Study of frequency and spectrum of GJB2 gene mutations in non-syndromic hearing loss patients of Semnan province

Abstract Background and aim: The frequency of hearing impairment is one out of 500 newborn babies, worldwide. However, in Iran, due to the high prevalence of consanguineous marriages, this amount is estimated to be two to three times higher. So far, more than 120 genes causing non-syndromic Hearing loss (NSHL) have been identified in the world, of which GJB2 gene mutations are the most common c...

متن کامل

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: Genetics and Molecular Biology

سال: 2013

ISSN: 1678-4685,1415-4757

DOI: 10.1590/s1415-47572013005000027