OMIA 000328-9685 : Ehlers-Danlos syndrome, type VII (Dermatosparaxis) in Felis catus
In other species: cattle , sheep , dog Possibly relevant human trait(s) and/or gene(s) (MIM number): 225410 Mendelian trait/disorder: yes Considered a defect: yes Key variant known: no Species-specific description: Although evidence is incomplete, it appears that this disorder in cats is due to a mutation in the gene for the enzyme procollagen I amino proteinase, which is the enzyme responsible for removing "surplus" amino acids from the N-terminal end of procollagen-I molecules. Breed: Himalayan.
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.
|1993||Lapiere, C.M., Nusgens, B.V. :|
|Ehlers-Danlos syndrome type VII-C, or human dermatosparaxis: the offspring of a union between basic and clinical research Archives of Dermatology 129:1316-1319, 1993. Pubmed reference: 8215498.|
|1980||Collier, L.L., Leathers, C.W., Counts, D.F. :|
|A clinical description of dermatosparaxis in a Himalayan cat Feline Practice 10:25-36, 1980.|
|Counts, D.F., Byers, P.H., Holbrook, K.A., Hegreberg, G.A. :|
|Dermatosparaxis in a Himalayan cat. I. Biochemical studies of dermal collagen Journal of Investigative Dermatology 74:96-99, 1980. Pubmed reference: 7351504.|
|Holbrook, K.A., Byers, P.H., Counts, D.F., Hegreberg, G.A. :|
|Dermatosparaxis in a Himalayan cat. II. Ultrastructural studies of dermal collagen Journal of Investigative Dermatology 74:100-104, 1980. Pubmed reference: 7351497.|
- Created by Frank Nicholas on 16 Jul 2005