Literature DB >> 1108764

Mutation and enzyme function in humans.

H E Sutton, R P Wagner.   

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Year:  1975        PMID： 1108764     DOI： 10.1146/annurev.ge.09.120175.001155

Source DB:  PubMed          Journal:  Annu Rev Genet        ISSN： 0066-4197            Impact factor:   16.830


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  9 in total

1.  Carnitine deficiency: clinical, morphological, and biochemical observations in a fatal case.

Authors:  A G Engel; B Q Banker; R M Eiben
Journal:  J Neurol Neurosurg Psychiatry       Date:  1977-04       Impact factor: 10.154

Review 2.  Ultraviolet mutagenesis and inducible DNA repair in Escherichia coli.

Authors:  E M Witkin
Journal:  Bacteriol Rev       Date:  1976-12

3.  Enhanced biosynthesis of human skin collagenase in fibroblast cultures from recessive dystrophic epidermolysis bullosa.

Authors:  K J Valle; E A Bauer
Journal:  J Clin Invest       Date:  1980-08       Impact factor: 14.808

4.  Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. Immunologic evidence for heterogeneity of the genetic defect.

Authors:  P M Anderson; R M Reddy; K E Anderson; R J Desnick
Journal:  J Clin Invest       Date:  1981-07       Impact factor: 14.808

5.  Human skin collagenase in recessive dystrophic epidermolysis bullosa. Purification of a mutant enzyme from fibroblast cultures.

Authors:  G P Stricklin; H G Welgus; E A Bauer
Journal:  J Clin Invest       Date:  1982-06       Impact factor: 14.808

6.  Recessive X-linked ichthyosis: lack of immunologically detectable steroid sulfatase enzyme protein.

Authors:  E H Epstein; J M Bonifas
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

7.  Regulation of expression of genes for enzymes of the mammalian urea cycle in permanent cell-culture lines of hepatic and non-hepatic origin.

Authors:  D F Haggerty; E B Spector; M Lynch; R Kern; L B Frank; S D Cederbaum
Journal:  Mol Cell Biochem       Date:  1983       Impact factor: 3.396

Review 8.  Inherited metabolic disease in laboratory animals: a review.

Authors:  G Bulfield
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

9.  Properties of arginase from liver of Macaca fascicularis; comparison of normals with red blood cell arginase deficient monkeys.

Authors:  K Terasaki; E B Spector; R Hendrickson; S D Cederbaum
Journal:  Biochem Genet       Date:  1980-10       Impact factor: 1.890
  9 in total

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