Concepedia

Heterogeneity of mutations in Maple Syrup Urine Disease (MSUD): screening and identification of affected E1α and E1β subunits of the branched-chain α-keto-acid dehydrogenase multienzyme complex

Yoshitaka Nobukini, Hiroshi Mitsubuchi, Yumi Hayashida, Kohji Ohta, Yasuhiro Indo, Yozo Ichiba, Fumio Endo, Ichiro Matsuda

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 1993 · 22 citations · 41 references

DOI

Concepts

References

41

Identification of the Cystic Fibrosis Gene: Genetic Analysis

Bat-Sheva Kerem, Johanna M. Rommens, Janet A. Buchanan et al. · Science · 1989 · 4.1K citations

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The Metabolic Basis of Inherited Disease

Annals of Internal Medicine · 1990 · 4K citations

, , +13

Identification of an altered splice site in Ashkenazi Tay-Sachs disease

Enrico Arpaia, Anne Dumbrille-Ross, Thomas Maler et al. · Nature · 1988 · 142 citations

, , +8

The human galactose-1-phosphate uridyltransferase gene

Nancy D. Leslie, Elisa B. Immerman, James E. Flach et al. · Genomics · 1992 · 138 citations

, , +8

Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

Yoichi Matsubara, Kuniaki Narisawa, Shigeaki Miyabayashi et al. · Biochemical and Biophysical Research Communications · 1990 · 109 citations

, , +14