TY  - GEN
AU  - Poulter,James A
AU  - Brookes,Steven J
AU  - Shore,Roger C
AU  - Smith,Claire E L
AU  - Abi Farraj,Layal
AU  - Kirkham,Jennifer
AU  - Inglehearn,Chris F
AU  - Mighell,Alan J
TI  - A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta
SN  - 1460-2083
PY  - 2014///1118
KW  - Amelogenesis Imperfecta
KW  - genetics
KW  - Amino Acid Sequence
KW  - Animals
KW  - DNA
KW  - Dental Enamel
KW  - metabolism
KW  - Exome
KW  - Genes, Recessive
KW  - Humans
KW  - Immunoenzyme Techniques
KW  - Integrin beta Chains
KW  - physiology
KW  - Mice
KW  - Microscopy, Electron, Scanning
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Pedigree
KW  - Phenotype
KW  - Polymorphism, Single Nucleotide
KW  - Real-Time Polymerase Chain Reaction
KW  - Sequence Homology, Amino Acid
KW  - X-Ray Microtomography
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/ddt616
ER  -