Article
Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in India.
Journal of cellular biochemistry - 1 Mar 2014
Bashyam Murali D, Chaudhary Ajay K, Kiran Manjari, Nagarajaram Hampapathalu A, Devi Radha Rama, Ranganath Prajnya, Dalal Ashwin, Bashyam Leena, Gupta Neerja, Kabra Madhulika, Muranjan Mamta, Puri Ratna D, Verma Ishwar C, Nampoothiri Sheela, Kadandale Jayarama S
Abstract excerpt
Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by mutational inactivation of the phenylalanine hydroxylase (PAH) gene. Missense mutations are the most common PAH mutation type detected in PKU patients worldwide. We performed PAH mutation analysis in 27 suspected Indian PKU families (including 7 from our previous study) followed by structure and function analysis of specific missense and...
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