Homozygous GRHPR C.494G>A mutation is deleterious that causes early onset of nephrolithiasis in West Bengal, India

Pediatric nephrolithiasis (NL) or Kidney stone disease (KSD) is an untethered topic in Asian population. In Western countries, the annual incidence of paediatric NL is around 6–10%. Here, we present data from West Bengal, India, on lower age (LA, 0–20 years) NL and its prevalence for the first time....

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Autors principals:	Arindam Chatterjee, Kunal Sarkar, Sarbashri Bank, Sudakshina Ghosh, Dilip Kumar Pal, Siddharth Saraf, Dhansagar Wakle, Bidyut Roy, Santanu Chakraborty, Biswabandhu Bankura, Debprasad Chattopadhyay, Madhusudan Das
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2022-12-01
Col·lecció:	Frontiers in Molecular Biosciences
Matèries:	kidney stone disease (KSD) whole exome sequencing (WES) nephrolithiasis (NL) GRHPR hyperoxaluria
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fmolb.2022.1049620/full
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