Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia

Vibeke Westphal(Sanford Burnham Prebys Medical Discovery Institute), Hudson H. Freeze(Discovery Institute), Andrea Blumenthal(Montreal Children's Hospital), Anne Tournay(UCLA Health), Sandra M. Peterson(Sanford Burnham Prebys Medical Discovery Institute), Marc C. Patterson(Mayo Clinic), Eileen P. Treacy(Trinity College Dublin)
Genetics in Medicine
November 1, 2001
Cited by 59


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