cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome

por Kuptanon, Chulaluk, Morimoto, Marie, Nicoli, Elena-Raluca, Stephen, Joshi, Yarnell, David S., Dorward, Heidi, Owen, William, Parikh, Suhag, Ozbek, Namik Yasar, Malbora, Baris, Ciccone, Carla, Gunay-Aygun, Meral, Gahl, William A., Introne, Wendy J., Malicdan, May Christine V.
Publicado 2023