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High Residual Activity of PMM2 in Patients’ Fibroblasts: Possible Pitfall in the Diagnosis of CDG-Ia (Phosphomannomutase Deficiency)

✍ Scribed by Stephanie Grünewald; Els Schollen; Emile Van Schaftingen; Jaak Jaeken; Gert Matthijs


Book ID
117853533
Publisher
American Society of Human Genetics
Year
2001
Tongue
English
Weight
284 KB
Volume
68
Category
Article
ISSN
0002-9297

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