The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome.

Autor: Cottrell, E., Ladha, T., Borysewicz-Sańczyk, H., Sawicka, B., Savage, M. O., Bossowski, A. T., Storr, H. L.
Zdroj: Journal of Endocrinological Investigation; Jun2021, Vol. 44 Issue 6, p1331-1334, 4p
Databáze: Complementary Index