21-Hydroxylase deficiency: Mutational spectrum and Genotype–Phenotype relations analyses by next-generation sequencing and multiplex ligation-dependent probe amplification

Autor: Turan, Ihsan, Tastan, Mehmet, Boga, Duygu D., Gurbuz, Fatih, Kotan, Leman D., Tuli, Abdullah, Yüksel, Bilgin
Zdroj: In European Journal of Medical Genetics April 2020 63(4)
Databáze: ScienceDirect