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Segregation of the N301T mutation in the family of the index patient with mevalonate kinase deficiency.
Segregation of the N301T mutation in the family of the index patient with mevalonate kinase deficiency.
1995
B. Goebel-Schreiner
R. Schreiner
Georg F. Hoffmann
K. M. Gibson
Keywords:
Endocrinology
Biology
Diabetes mellitus
Internal medicine
Enzyme
Peroxisomal disorder
Mevalonate kinase deficiency
Mevalonate kinase
Mutation
Genetics
congenital disease
Correction
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