Missense variants C1600T and G1714A were investigated in the relatives of probands A2.21 and B2.1, respectively.
Las variantes missence G1714A y C1600T fueron investigadas en los familiares de los probandos A2.21 y B2.1, respectivamente.
As variantes missence G1714A e C1600T foram pesquisadas nos familiares dos probandos A2.21 e B2.1, respectivamente.