Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency.

Nithiphut TantirukdhamTaninee SahakitrungruangRatikorn ChaisiwamongkolMonnat PongpanichChalurmpon SrichomthongAdjima AssawapitaksakulAayalida BuasongSiraprapa TongkobpetchPatra Yeetong Vorasuk Shotelersuk

Published in: The Journal of clinical endocrinology and metabolism (2022)

Our approach exploiting locus-specific PCR and long-read DNA sequencing has a 100% diagnostic yield for our cohort of 48 patients with 21-OHD.

Keyphrases

single molecule
single cell
circulating tumor
cell free
replacement therapy
smoking cessation
circulating tumor cells