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Paper Details

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Am J Hum Genet
56
2019
Albinism, C, CLCN7, CLCN7 Variant, CLCN7 variant, Cl-, ClC-7, ClC-7 antiporter, Clcn7, De Novo CLCN7 Variant, Fibroblasts, H+, Primary fibroblasts, Tyr715Cys, c.2144A, children, chloroquine, control cells, cultured fibroblasts, delayed myelination and development, developmental delay, fibroblasts, hepatomegaly, human, human p.Tyr715Cys CLCN7, hypopigmentation, lysosomal hyperacidity, mouse, oocytes, organomegaly, osteopetrosis, p, p.Tyr715Cys CLCN7
Author NameAffiliation
Mariska DavidsNational Human Genome Research Institute (NHGRI), National Institutes of Health (NIH)
Mariska DavidsNational Human Genome Research Institute (NHGRI), National Institutes of Health (NIH)
Yan HuangNational Human Genome Research Institute (NHGRI), National Institutes of Health (NIH)
David R AdamsNational Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), USA Office of the Clinical Director, National Human Genome Research Institute
David R AdamsNational Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), USA Office of the Clinical Director, National Human Genome Research Institute
Thomas C MarkelloNational Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), USA Office of the Clinical Director, National Human Genome Research Institute
Camilo ToroNational Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), USA Office of the Clinical Director, National Human Genome Research Institute
Cynthia J TifftNational Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), USA Office of the Clinical Director, National Human Genome Research Institute
Cynthia J TifftNational Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), USA Office of the Clinical Director, National Human Genome Research Institute
William A GahlNational Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), National Human Genome Research Institute, USA Office of the Clinical Director
William A GahlNational Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), National Human Genome Research Institute, USA Office of the Clinical Director
May Christine V MalicdanNational Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), National Human Genome Research Institute, USA Office of the Clinical Director
May Christine V MalicdanNational Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), National Human Genome Research Institute, USA Office of the Clinical Director
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