• Media type: E-Article
  • Title: Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification
  • Contributor: Nicoli, Elena-Raluca; Weston, Mary R.; Hackbarth, Mary; Becerril, Alissa; Larson, Austin; Zein, Wadih M.; Baker, Peter R.; Burke, John Douglas; Dorward, Heidi; Davids, Mariska; Huang, Yan; Adams, David R.; Zerfas, Patricia M.; Chen, Dong; Markello, Thomas C.; Toro, Camilo; Wood, Tim; Elliott, Gene; Vu, Mylinh; Zheng, Wei; Garrett, Lisa J.; Tifft, Cynthia J.; Gahl, William A.; Day-Salvatore, Debra L.; [...]
  • Published: Elsevier BV, 2019
  • Published in: The American Journal of Human Genetics, 104 (2019) 6, Seite 1127-1138
  • Language: English
  • DOI: 10.1016/j.ajhg.2019.04.008
  • ISSN: 0002-9297
  • Origination:
  • Footnote:
  • Access State: Open Access