Scientific Publication 

Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD

Author(s): Rolfs, Prof. Arndt, MD, Brandau, Oliver, MD, Eichler, Sabrina, PhD, Pandita, Shewata, Ramachandran, Vijaya, Balakrishnan, Prahlad, Bhalla, Anil Kumar, Khullar, Dinesh, Amitabh, Vindu, Ramanarayanan, Sivaramakrishnan, Kher, Vijay, Verma, Jyotsna, Kohli, Sudha, Saxena, Renu, Verma, Ishwar Chander

CENTOGENE considers its global positioning a key aspect for generating truly novel knowledge. The company’s involvement in a recent large-scale epidemiological study in India nicely exemplifies the success of this approach. Upon genetic screening of Indian patients with chronic liver disease, many pathogenic PKD1 variants were shown to be specific to this under-investigated ethnic group. The findings were published ahead of print in Journal of Human Genetics on February 28th.

CENTOGENE considers its global positioning a key aspect for generating truly novel knowledge. The company’s involvement in a recent large-scale epidemiological study in India nicely exemplifies the success of this approach. Upon genetic screening of Indian patients with chronic liver disease, many pathogenic PKD1 variants were shown to be specific to this under-investigated ethnic group. The findings were published ahead of print in Journal of Human Genetics on February 28th.


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