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Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta.

Archives of oral biology | 2015

To relate the peculiar phenotype of amelogenesis imperfecta in a large Bedouin family to the genotype determined by whole genome linkage analysis.

Pubmed ID: 25827751 RIS Download

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HOMOZYGOSITYMAPPER (tool)

RRID:SCR_001714

A web-based approach of homozygosity mapping that can handle tens of thousands markers. User can upload their own SNP genotype files to the database. Intuitive graphic interface is provided to view the homozygous stretches, with the ability of zooming into single chromosomes or user-defined chromosome regions. The underlying genotypes in all samples are displayed. The software is also integrated with our candidate gene search engine, GeneDistiller, so that users can interactively determine the most promising gene. (entry from Genetic Analysis Software)

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