GALNS mutations in Indian patients with mucopolysaccharidosis IVA.

doi:10.1002/ajmg.a.36735

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Article

GALNS mutations in Indian patients with mucopolysaccharidosis IVA.

American journal of medical genetics. Part A - 1 Nov 2014

Bidchol Abdul Mueed, Dalal Ashwin, Shah Hitesh, S Suryanarayana, Nampoothiri Sheela, Kabra Madhulika, Gupta Neerja, Danda Sumita, Gowrishankar Kalpana, Phadke Shubha R, Kapoor Seema, Kamate Mahesh, Verma I C, Puri Ratna Dua, Sankar V H, Devi A Radha Rama, Patil S J, Ranganath Prajnya, Jain S Jamal Md Nurul, Agarwal Meenal, Singh Ankur, Mishra Pallavi, Tamhankar Parag M, Gopinath Puthiya Mundyat, Nagarajaram H A, Satyamoorthy Kapaettu, Girisha Katta Mohan

Abstract excerpt

Mucopolysaccharidosis IV A (Morquio syndrome A, MPS IVA) is a lysosomal storage disease caused by the deficiency of N-acetylgalactosamine-6-sulfatase (GALNS). The mutation spectrum in this condition is yet to be determined in Indians. We aimed to analyze the mutations in the GALNS gene in Asian Indians with MPS IVA. All the exons and the adjacent intronic regions of the gene were amplified and sequenced in...

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PMID: 25252036
DOI: 10.1002/ajmg.a.36735

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GALNS

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