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OMIA:001144-9322 : Galactosemia in Macropus sp.

Categories: Homeostasis / metabolism phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 230400 (trait) , 606999 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: no

References

Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

1979 Richardson, B.J., Inglis, B., Poole, W.E., Rolfe, B. :
Galactose-1 phosphate uridyl transferase deficiency in the western grey kangaroo (Macropus fuliginosus; marsupialia): a model system for gene therapy studies. Aust J Exp Biol Med Sci 57:43-9, 1979. Pubmed reference: 383061 .
1974 Stephens, T., Irvine, S., Mutton, P., Gupta, J.D., Marley, J.D. :
Deficiency of two enzymes of galactose metabolism in kangaroos. Nature 248:524-5, 1974. Pubmed reference: 4824350 .

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 25 Nov 2011