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Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease.

Indian journal of pediatrics - 1 Mar 2023

Nagral Aabha, Mallakmir Snehal, Garg Nikita, Tiwari Kritika, Masih Suzena, Nagral Nishtha, Unavane Ojas, Jhaveri Ajay, Phadke Shubha, ArunKumar GaneshPrasad, Aggarwal Rakesh

Abstract excerpt

OBJECTIVE: To report genotype data of the patients with Wilson disease (WD) hailing from across several parts of India to add to the available spectrum of causative variants in ATP7B gene (ATPase copper transporting beta polypeptide gene) and associated phenotypes in the Indian population. METHODS: The entire ATP7B gene was sequenced in 58 patients with WD and additional testing was also done by MLPA to look for...

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PMID: 36112267
DOI: 10.1007/s12098-022-04250-9

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