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pro vyhledávání: '"David S. Yarnell"'
Autor:
Chulaluk Kuptanon, Marie Morimoto, Elena-Raluca Nicoli, Joshi Stephen, David S. Yarnell, Heidi Dorward, William Owen, Suhag Parikh, Namik Yasar Ozbek, Baris Malbora, Carla Ciccone, Meral Gunay-Aygun, William A. Gahl, Wendy J. Introne, May Christine V. Malicdan
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Chediak-Higashi syndrome (CHS) is rare autosomal recessive disorder caused by bi-allelic variants in the Lysosomal Trafficking Regulator (LYST) gene. Diagnosis is established by the detection of pathogenic variants in LYST in combinatio
Externí odkaz:
https://doaj.org/article/a5b5866443d44273bd3fd32bca890596
