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von Willebrand's Disease Type II

Description

The original paper by Donner et al (2016); found this mutation to be polymorphic in several breeds, suggesting that it is not the causative variant.  This result is not recommended for breeding decisions.

Recommended Breeding

Diseases

von Willebrand's Disease Type II

$ 50.00

1

Associated Breed(s):

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Labels:

Category:

Haemolymphatic - Associated with the blood and lymph

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Gene:

von Willebrand factor (vWF) on Chromosome 27

Variant Detected:

Base Substitution c.4937A>G p.Asn883Ser

Mode of Inheritance:

Autosomal Recessive

OMIA Reference:

Click to View Full OMIA Reference