Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta.

Poulter, James A

Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta. [electronic resource] - European journal of human genetics : EJHG Jan 2014 - 132-5 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1476-5438

10.1038/ejhg.2013.76 doi


Amelogenesis Imperfecta--etiology
Cell Adhesion Molecules--genetics
Epidermolysis Bullosa, Junctional--genetics
Exome
Female
Frameshift Mutation
Genetic Linkage
High-Throughput Nucleotide Sequencing
Humans
Male
Pedigree
Kalinin