alexa Abstract | Identification of a Rare Mutation Causing Hereditary Tyrosinemia Type 1 in an Iranian Child Compound with Dextrocardia Phenotype
ISSN: 2165-8048

Internal Medicine: Open Access
Open Access

OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations

700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

Case Report Open Access

Abstract

Different mutations in fumarylacetoacetatase (FAH) gene can lead to tyrosinemia type1 (HT1), relatively rare autosomal disorders. Nearly 50 mutations in FAH gene have been identified in different races around the world. Here we presented a boy aged 2 years and 9 months old was diagnosed with HT1 compound with dextrocardia based on his biochemical abnormality and cardio logical examinations. Screening of FAH gene exposed a heterozygous nonsense mutation R237X that was not already reported in Iranian patients. This mutation revealed a chronic progression of disease in this child.

To read the full article Peer-reviewed Article PDF image | Peer-reviewed Full Article image

Author(s): Vazifehmand M, Ali DS,  Ahangarkolaee SAG and  Poor MJR

Keywords

FAH gene, Tyrosinemia type 1, Dextrocardia, Rare nonsense mutation, Iranian patient, Neurogenetics, Immunology

Share This Page

Additional Info

Loading
Loading Please wait..
 
 
 
 
Peer Reviewed Journals
 
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
 
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

 
© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version
adwords