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Amelogenesis Imperfecta, ACP4-related

Breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
GTPs
Genomia s.r.o

General

Disease Name
Amelogenesis Imperfecta, ACP4-related
OMIA
2177
Gene Name
ACP4
Mutation
c.1189dupG
Test Type
Genetic Disease/Disorder
Published
2019 Hytönen, M.K., Arumilli, M., Sarkiala, E., Nieminen, P., Lohi, H. : Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants. Hum Genet :, 2019. Pubmed reference: 30877375. DOI: 10.1007/s00439-019-01997-8.
Inheritance
AR

Breed Specific Info

Researched Breeds
Akita, American Akita
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