Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism-Reference-Cited by-同舟云学术

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism

Published:2004-06-18 Issue:2 Volume:24 Page:130-139
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Gootjes Jeannette,Schmohl Frank,Mooijer Petra A.W.,Dekker Conny,Mandel Hanna,Topcu Meral,Huemer Martina,von Schütz M.,Marquardt Thorsten,Smeitink Jan A.,Waterham Hans R.,Wanders Ronald J.A.

Funder

Prinses Beatrix Fonds

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference39 articles.

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4. Catalase-less peroxisomes. Implication in the milder forms of peroxisome biogenesis disorder;Fujiwara;J Biol Chem,2000

5. Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder;Gootjes;Eur J Hum Genet,2003

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