Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta

Amelogenesis imperfecta is a group of inherited diseases affecting the quality and quantity of dental enamel. To date, mutations in more than ten genes have been associated with non-syndromic amelogenesis imperfecta (AI). Among these, ENAM and LAMB3 mutations are known to be parts of the etiology of...

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Veröffentlicht in:	PloS one 2015-03, Vol.10 (3), p.e0116514-e0116514
Hauptverfasser:	Wang, Xin, Zhao, Yuming, Yang, Yuan, Qin, Man
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Alleles Amelogenesis imperfecta Amelogenesis Imperfecta - genetics Amelogenesis Imperfecta - pathology Asian People - genetics Base Sequence C-Terminus Cell Adhesion Molecules - chemistry Cell Adhesion Molecules - genetics Child China Dental enamel Dental Enamel - pathology Dental Enamel Hypoplasia - genetics Dental Enamel Hypoplasia - pathology Dentistry Deoxyribonucleic acid DNA DNA sequencing Enamel Epidermolysis bullosa Etiology Extracellular Matrix Proteins - chemistry Extracellular Matrix Proteins - genetics Family Female Fragility Gene deletion Gene mutation Gene sequencing Genes Genetic aspects Hereditary diseases Humans Hypoplasia Insertion Junctional epidermolysis bullosa Kalinin Laminin Ligands Male Models, Molecular Molecular Sequence Data Mutation Nonsense mutation Pediatrics Pedigree Proteins Screening Skin
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