Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2019
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2019.05.019