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Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease
by
Ranganath, Prajnya
,
Matta, Divya
,
Bhavani, Gandham SriLakshmi
,
Wangnekar, Savita
,
Jain, Jamal Mohammed Nurul
,
Verma, Ishwar C.
,
Kabra, Madhulika
,
Puri, Ratna Dua
,
Danda, Sumita
,
Gupta, Neerja
,
Girisha, Katta M.
,
Sankar, Vaikom H.
,
Patil, Siddaramappa J.
,
Ramadevi, Akella Radha
,
Bhat, Meenakshi
,
Gowrishankar, Kalpana
,
Mandal, Kausik
,
Aggarwal, Shagun
,
Tamhankar, Parag Mohan
,
Tilak, Preetha
,
Phadke, Shubha R.
,
Dalal, Ashwin
Published in
American journal of medical genetics. Part A
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Spectrum of mutations in the SMPD1 gene in Asian Indian patients with acid sphingomyelinase deficient Niemann–Pick disease
by
Ranganath, Prajnya
,
Matta, Divya
,
Bhavani, Gandham SriLakshmi
,
Wangnekar, Savita
,
Jain, Jamal Mohammed Nurul
,
Verma, Ishwar C.
,
Kabra, Madhulika
,
Puri, Ratna D.
,
Danda, Sumita
,
Gupta, Neerja
,
Girisha, Katta M.
,
Sankar, Vaikom H.
,
Patil, Siddaramappa J.
,
Devi, Akella Radha Rama
,
Bhat, Meenakshi
,
Gowrishankar, Kalpana
,
Mandal, Kausik
,
Aggarwal, Shagun
,
Tamhankar, Parag Mohan
,
Tilak, Preetha
,
Phadke, Shubha R.
,
Dalal, Ashwin
Published in
American journal of medical genetics. Part A
Get full text
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Article
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Journal Title
American Journal Of Medical Genetics. Part A
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Subjects
Genetics & Heredity
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Life Sciences & Biomedicine
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Niemann-Pick Disease
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Science & Technology
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Acid Sphingomyelinase Deficiency
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Adolescent
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Alleles
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Amino Acid Substitution
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Biomarkers
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Child
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Child, Preschool
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Computational Biology - Methods
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Consanguinity
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Dna Mutational Analysis
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Enzyme Activation
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Exons
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Facies
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Genotype
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Haplotypes
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Humans
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Wiley
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