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Amelogenesis Imperfecta, ACP4-related
Breed: Akita
Generic Phene Data
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
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.
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Akita, American Akita
HSP Test-Specific Data
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
AI
Gene Name
ACP4
Mutation
c.1189dupG
Mutation Comment
g.106051997dupC
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