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 (Q28204732)

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scientific article (publication date: March 2002)
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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
scientific article (publication date: March 2002)

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    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 (English)
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    Vibeke Westphal
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    Susanne Kjaergaard
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    Els Schollen
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    Kevin Martens
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    Stephanie Grunewald
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    Marianne Schwartz
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    Gert Matthijs
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    Hudson H Freeze
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    1 March 2002
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    11
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    599-604
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    5
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