Article
Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: identification of novel mutations that affect PAH RNA.
Molecular genetics and metabolism - 1 May 2010
Bashyam Murali D, Chaudhary Ajay K, Reddy E Chandrakanth, Devi A Radha Rama, Savithri G R, Ratheesh R, Bashyam Leena, Mahesh E, Sen Dity, Puri Ratna, Verma Ishwar C, Verma Inder C, Nampoothiri Sheela, Vaidyanathan Sunitha, Chandrashekar Mataguru D, Kantheti Prameela
Abstract excerpt
Analysis of seven Indian phenylketonuria families has revealed four novel mutations in the phenylalanine hydroxylase gene; two affected consensus splice sequence and the 3' UTR, respectively, while the other two were single base insertion and deletion mutations, respectively. A novel 3' splice site mutation c.168-2A>G resulted in the activation of a cryptic 3' splice site that generated a premature termination...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.