OMIA 001427-9615 : Gangliosidosis, GM2, GM2A deficiency in Canis lupus familiaris |
In other species:
domestic cat
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
272750 (trait)
,
613109 (gene)
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
no
Cross-species summary:
Also known as GM2 gangliosidosis type AB
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.
1987 | Ishikawa, Y., Li, SC., Wood, PA., Li, YT. : | |
Biochemical basis of type AB GM2 gangliosidosis in a Japanese spaniel. J Neurochem 48:860-4, 1987. Pubmed reference: 2949061. | ||
1985 | Cummings, JF., Wood, PA., Walkley, SU., de Lahunta, A., DeForest, ME. : | |
GM2 gangliosidosis in a Japanese spaniel. Acta Neuropathol (Berl) 67:247-53, 1985. Pubmed reference: 2931941. |
Edit History
- Created by Frank Nicholas on 27 Jun 2006