Mutations in PIGB Cause an Inherited GPI Biosynthesis...

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The American Journal of Human Genetics 2019 / 6

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

Murakami, Yoshiko, Nguyen, Thi Tuyet Mai, Baratang, Nissan, Raju, Praveen K., Knaus, Alexej, Ellard, Sian, Jones, Gabriela, Lace, Baiba, Rousseau, Justine, Ajeawung, Norbert Fonya, Kamei, Atsushi, Min
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Language:
english
Journal:
The American Journal of Human Genetics
DOI:
10.1016/j.ajhg.2019.05.019
Date:
June, 2019
File:
PDF, 2.27 MB
english, 2019
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