Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

Y Murakami, TTM Nguyen, N Baratang, PK Raju, A Knaus, S Ellard, G Jones, B Lace, J Rousseau, NF Ajeawung, A Kamei, G Minase, M Akasaka, N Araya, E Koshimizu, J Ende, F Erger, J Altmuller, Z Krumina, J StrautmanisI Inashkina, J Stavusis, A El-Gharbawy, J Sebastian, RD Puri, S Kulshrestha, IC Verma, EM Maier, TB Haack, A Israni, J Baptista, A Gunning, JA Rosenfeld, PF Liu, Marieke Joosten, ME Rocha, MO Hashem, HM Aldhalaan, FS Alkuraya, S Miyatake, N Matsumoto, PM Krawitz, E Rossignol, T Kinoshita, PM Campeau

Research output: Contribution to journalArticleAcademicpeer-review

27 Citations (Scopus)
Original languageUndefined/Unknown
Pages (from-to)384-394
Number of pages11
JournalAmerican Journal of Human Genetics
Volume105
Issue number2
DOIs
Publication statusPublished - 2019

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