Literature DB >> 4355237

Complementation analysis of maple syrup urine disease in heterokaryons derived from cultured human fibroblasts.

L B Lyons, R P Cox, J Dancis.   

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Year:  1973        PMID： 4355237     DOI： 10.1038/243533a0

Source DB:  PubMed          Journal:  Nature        ISSN： 0028-0836            Impact factor:   49.962


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  17 in total

1.  Molecular diagnosis of maple syrup urine disease: screening and identification of gene mutations in the branched-chain alpha-ketoacid dehydrogenase multienzyme complex.

Authors:  Y Nobukuni; H Mitsubuchi; K Ohta; I Akaboshi; Y Indo; F Endo; I Matsuda
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Genetic heterogeneity in xeroderma pigmentosum: complementation groups and their relationship to DNA repair rates.

Authors:  K H Kraemer; H G Coon; R A Petinga; S F Barrett; A E Rahe; J H Robbins
Journal:  Proc Natl Acad Sci U S A       Date:  1975-01       Impact factor: 11.205

3.  Heterokaryons in the analysis of genes and gene regulation.

Authors:  J Zeuthen
Journal:  Humangenetik       Date:  1975

4.  Maple syrup urine disease: clinical and biochemical significance of gene analysis.

Authors:  Y Nobukuni; H Mitsubuchi; I Akaboshi; Y Indo; F Endo; I Matsuda
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

5.  Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.

Authors:  R A Gravel; K F Lam; K J Scully; Y Hsia
Journal:  Am J Hum Genet       Date:  1977-07       Impact factor: 11.025

6.  Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant.

Authors:  H F Willard; I S Mellman; L E Rosenberg
Journal:  Am J Hum Genet       Date:  1978-01       Impact factor: 11.025

7.  Analysis of genetic complementation by whole-cell microtechniques in fibroblast heterokaryons.

Authors:  R A Gravel; A Leung; M Saunders; P Hösli
Journal:  Proc Natl Acad Sci U S A       Date:  1979-12       Impact factor: 11.205

8.  Study on established lymphoid cells in maple syrup urine disease. Correlation with clinical heterogeneity.

Authors:  Y Jinno; I Akaboshi; T Katsuki; I Matsuda
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

9.  Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple syrup urine disease.

Authors:  Y Indo; A Kitano; F Endo; I Akaboshi; I Matsuda
Journal:  J Clin Invest       Date:  1987-07       Impact factor: 14.808

10.  Detection of heterozygotes in maple-syrup-urine disease: measurements of branched-chain alpha-ketoacid dehydrogenase and its components in cell cultures.

Authors:  D T Chuang; L S Ku; D S Kerr; R P Cox
Journal:  Am J Hum Genet       Date:  1982-05       Impact factor: 11.025
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