Novel genetic linkage of rat Sp6 mutation to Amelogenesis imperfecta.

doi:10.1186/1750-1172-7-34

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Article

Novel genetic linkage of rat Sp6 mutation to Amelogenesis imperfecta.

Orphanet journal of rare diseases - 7 Jun 2012

Muto Taro, Miyoshi Keiko, Horiguchi Taigo, Hagita Hiroko, Noma Takafumi

Abstract excerpt

BACKGROUND: Amelogenesis imperfecta (AI) is an inherited disorder characterized by abnormal formation of tooth enamel. Although several genes responsible for AI have been reported, not all causative genes for human AI have been identified to date. AMI rat has been reported as an autosomal recessive mutant with hypoplastic AI isolated from a colony of stroke-prone spontaneously hypertensive rat strain, but the...

Topics

Amelogenesis Imperfecta
Animals
Blotting, Western
Codon
Disease Models, Animal
Genetic Linkage
Genotyping Techniques
Immunohistochemistry
Kruppel-Like Transcription Factors
Mutation
Rats

Source

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Identifiers

PMID: 22676574
DOI: 10.1186/1750-1172-7-34
PMCID: PMC3464675

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