Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta

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Amelogenesis Imperfecta; Genes, Proteins, and Pathways.Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders

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Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta

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2017年論文

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2017年論文

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2017年論文

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Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta

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Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta

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Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta

@en

Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta

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Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta

@en

Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta

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P1154

2-s2.0-85019555481

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European Journal of Human Genetics

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Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta

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P2093

Claire El Smith

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Francesca Soldani

http://www.w3.org/2001/XMLSchema#string

Laura LE Whitehouse

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P2860

dbSNP: the NCBI database of genetic variation

Fast and accurate short read alignment with Burrows-Wheeler transform

Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

Amelogenesis imperfecta: prevalence and incidence in a northern Swedish county.

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.

Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta.

Dentin: structure, composition and mineralization

Testicular acid phosphatase induces odontoblast differentiation and mineralization.

Acid phosphatase: new developments.

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ejhg.2017.79

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scholarly article

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10.1038/EJHG.2017.79

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