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  2. Details for: Life with too much polyprenol: polyprenol reductase deficiency.
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Life with too much polyprenol: polyprenol reductase deficiency. [electronic resource]

By:
  • Gründahl, J E H
Contributor(s):
  • Guan, Z
  • Rust, S
  • Reunert, J
  • Müller, B
  • Du Chesne, I
  • Zerres, K
  • Rudnik-Schöneborn, S
  • Ortiz-Brüchle, N
  • Häusler, M G
  • Siedlecka, J
  • Swiezewska, E
  • Raetz, C R H
  • Marquardt, T
Producer: 20120716Description: 642-51 p. digitalISSN:
  • 1096-7206
Subject(s):
  • 3-Oxo-5-alpha-Steroid 4-Dehydrogenase -- genetics
  • Cells, Cultured
  • Chromatography, High Pressure Liquid
  • Congenital Disorders of Glycosylation -- diagnosis
  • Dolichols -- metabolism
  • Electrophoresis, Polyacrylamide Gel
  • Female
  • Fibroblasts
  • Genetic Complementation Test
  • Glycosylation
  • Homozygote
  • Humans
  • Immunoprecipitation
  • Infant, Newborn
  • Isoelectric Focusing
  • Male
  • Membrane Proteins -- genetics
  • Mutation -- genetics
  • Pedigree
  • Pentanols -- metabolism
Online resources:
  • Available from publisher's website
In: Molecular genetics and metabolism vol. 105
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Publication Type: Case Reports; Journal Article

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Life with too much polyprenol: polyprenol reductase deficiency.

APA

Gründahl J. E. H., Guan Z., Rust S., Reunert J., Müller B., Du Chesne I., Zerres K., Rudnik-Schöneborn S., Ortiz-Brüchle N., Häusler M. G., Siedlecka J., Swiezewska E., Raetz C. R. H. & Marquardt T. (20120716). Life with too much polyprenol: polyprenol reductase deficiency. : Molecular genetics and metabolism.

Chicago

Gründahl J E H, Guan Z, Rust S, Reunert J, Müller B, Du Chesne I, Zerres K, Rudnik-Schöneborn S, Ortiz-Brüchle N, Häusler M G, Siedlecka J, Swiezewska E, Raetz C R H and Marquardt T. 20120716. Life with too much polyprenol: polyprenol reductase deficiency. : Molecular genetics and metabolism.

Harvard

Gründahl J. E. H., Guan Z., Rust S., Reunert J., Müller B., Du Chesne I., Zerres K., Rudnik-Schöneborn S., Ortiz-Brüchle N., Häusler M. G., Siedlecka J., Swiezewska E., Raetz C. R. H. and Marquardt T. (20120716). Life with too much polyprenol: polyprenol reductase deficiency. : Molecular genetics and metabolism.

MLA

Gründahl J E H, Guan Z, Rust S, Reunert J, Müller B, Du Chesne I, Zerres K, Rudnik-Schöneborn S, Ortiz-Brüchle N, Häusler M G, Siedlecka J, Swiezewska E, Raetz C R H and Marquardt T. Life with too much polyprenol: polyprenol reductase deficiency. : Molecular genetics and metabolism. 20120716.

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