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GALNS mutations in Indian patients with mucopolysaccharidosis IVA
Abdul Mueed Bidchol
, Ashwin Dalal
,
Hitesh Shah
, Suryanarayana S
, Sheela Nampoothiri
, Madhulika Kabra
, Neerja Gupta
, Sumita Danda
, Kalpana Gowrishankar
, Shubha R. Phadke
, Seema Kapoor
, Mahesh Kamate
, I. C. Verma
, Ratna Dua Puri
, V. H. Sankar
, A. Radha Rama Devi
, S. J. Patil
, Prajnya Ranganath
, S. Jamal Md Nurul Jain
, Meenal Agarwal
Ankur Singh, Pallavi Mishra, Parag M. Tamhankar, Puthiya Mundyat Gopinath, H. A. Nagarajaram, Kapaettu Satyamoorthy, Katta Mohan Girisha
*
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Corresponding author for this work
Department of Medical Genetics, Kasturba Medical College, Manipal
Research output
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Contribution to journal
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Article
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peer-review
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Citations (Scopus)
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Biochemistry, Genetics and Molecular Biology
Exon
100%
N-Acetylgalactosamine
100%
Sulfatase
100%
Mucopolysaccharidosis
100%
Allele
66%
Frameshift Mutation
33%
Lysosomal Storage Disease
33%
Missense
33%
Nonsense Mutation
33%
Morquio Syndrome
33%
INIS
india
100%
patients
100%
mutations
100%
exons
27%
populations
18%
genes
18%
spectra
18%
mutants
18%
cost
9%
comparative evaluations
9%
diseases
9%
storage
9%