Gene analysis of mennonite maple syrup urine disease kindred using primer-specified restriction map modification

Author:

Mitsubuchi H.,Matsuda I.,Nobukuni Y.,Heidenreich R.,Indo Y.,Endo F.,Mallee J.,Segal S.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference24 articles.

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2. Danner DJ, Elsas LJ (1989) Disorders of branched-chain amino acid and keto acid metabolism. In Scriver CR, Beaudet AL, Sly WS, Valle D eds.The Metabolic Basis of Inherited Disease, 6th edn. New York: McGraw-Hill, 671–692

3. Danner DJ, Armstrong N, Heffelfinger SC, Sewell ET, Priest JH, Elsas LJ (1985) Absence of branched chain acyl-transferase as a cause of maple syrup urine disease.J Clin Invest 75: 858–860

4. Danner DJ, Litwer S, Herring WJ, Pruckler J (1989) Construction and nucleotide sequence of a cDNA encoding the full-length preprotein for human branched-chain acyltransferase.J Biol Chem 264: 7742–7746

5. Fisher CR, Fisher CW, Chuang DT, Cox RP (1991) Occurrence of a Tyr 393 → Asn (Y393N) mutation in the E1α gene of the branched-chain α-keto acid dehydrogenase complex in maple syrup urine disease patients from Mennonite population.Am J Hum Genet 49: 429–434

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