Publication

Westphal V, Kjaergaard S, Schollen E, Martens K, Grunewald S, Schwartz M, Matthijs G, Freeze HH, A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. Hum Mol Genet11(5):599-604 2002
PubMed ID: 11875054

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Catalog IDDescription
MPDR450DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION