Literature DB >> 9892737

The genetic defect of the alkaptonuric mouse (aku).

W Kress1, S R Schmidt, B Halliger-Keller, X Montagutelli, C R Müller.   

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Year:  1999        PMID: 9892737     DOI: 10.1007/s003359900945

Source DB:  PubMed          Journal:  Mamm Genome        ISSN: 0938-8990            Impact factor:   2.957


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  3 in total

1.  Three-generational alkaptonuria in a non-consanguineous family.

Authors:  K Oexle; K Engel; S Tinschert; D Haas; M A Lee-Kirsch
Journal:  J Inherit Metab Dis       Date:  2008-12-22       Impact factor: 4.982

2.  Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.

Authors:  Thierry Vilboux; Michael Kayser; Wendy Introne; Pim Suwannarat; Isa Bernardini; Roxanne Fischer; Kevin O'Brien; Robert Kleta; Marjan Huizing; William A Gahl
Journal:  Hum Mutat       Date:  2009-12       Impact factor: 4.878

3.  Expression of tyrosine pathway enzymes in mice demonstrates that homogentisate 1,2-dioxygenase deficiency in the liver is responsible for homogentisic acid-derived ochronotic pigmentation.

Authors:  Peter J M Wilson; Lakshminarayan R Ranganath; George Bou-Gharios; James A Gallagher; Juliette H Hughes
Journal:  JIMD Rep       Date:  2020-11-12
  3 in total

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