Characterization of a recurrent 3.8kb deletion involving exons 17a and 17b within the CFTR gene

نویسندگان
چکیده

برای دانلود رایگان 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

Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4–11

We report a classic cystic fibrosis (CF) boy with a large deletion of exons 4-11 in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on one allele and p.Phe508del in exon 10 on the second allele. Both parents of Georgian and Ukrainian background had no personal or family history of the disease. The initial molecular diagnostic investigation identified the patient as homozygou...

متن کامل

heterogeneity within the orientalist discourse: representation of the orient in womens travelogues and mens paintings

from 1950s onward, new theories and critical approaches burgeoned across humanities. these theories were context-oriented; as a result, the analysis of discursive practices gained significance. thus, social, political, historical and cultural discourses that have been hitherto marginalized and considered inferior to literary texts, were introduced as important texts to be analyzed by critics. o...

Mutation Analysis of Exons 10 and 17a of CFTR Gene in Patients with Cystic Fibrosis in Kermanshah Province, Western Iran

BACKGROUND Cystic fibrosis (CF) is the most common genetic disorder with autosomal recessive inheritance among Caucasian populations. So far, more than 1950 different mutations were identified in cystic fibrosis transmembrane conductance regulator (CFTR) gene. CFTR gene has 27 exons. The type and distribution of mutations vary widely among different countries and/or ethnic groups. Therefore, a ...

متن کامل

Mutation and Rare Polymorphisms Insight in Exons 7 and 20 of CFTR Gene in Non-Caucasian Cystic Fibrosis Patients

Cystic fibrosis (CF) is the most common severe autosomal recessive disorder caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The frequencies, types and distributions of mutations vary widely between different populations and ethnic groups. The aim of this study was to perform a comprehensive analysis of the 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: Journal of Cystic Fibrosis

سال: 2013

ISSN: 1569-1993

DOI: 10.1016/j.jcf.2012.08.017