Genetic Insight into Birt-Hogg-Dube syndrome in Indian patients reveals novel mutations in FLCN
Anindita Ray, Esita Chattopadhyay, Richa Singh, Arnab Bera, Mridul Sarma, Mahavir Munot, Unnati Desai, Sujeet K. Rajan, Pralhad Prabhudesai, Ashish Kumar Prakash, Sushmita Roychowdhury, Niladri Bhowmick, Raja Dhar, Zarir F. Udwadia, Atin Dey, , Bidyut Roy
The paper identifies novel FLCN mutations in Indian BHDS patients and highlights the role of MTHFR SNPs in disease diagnosis.
Orphanet Journal of Rare Diseases · Apr 27, 2022Peer-reviewedGenetic & Genomic Medicine