A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.
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Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis ImperfectaAlteration of conserved alternative splicing in AMELX causes enamel defects.Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis ImperfectaHypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation.ENAM mutations with incomplete penetrance.Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report.Novel ITGB6 mutation in autosomal recessive amelogenesis imperfectaA targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvementMutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta.Deletion of Slc26a1 and Slc26a7 Delays Enamel Mineralization in Mice.Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes.Amelogenesis Imperfecta; Genes, Proteins, and Pathways.Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability.Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency.DLX3-Dependent Regulation of Ion Transporters and Carbonic Anhydrases is Crucial for Enamel Mineralization.A novel de novo mutation in LAMB3 causes localized hypoplastic enamel in the molar region.Novel MMP20 and KLK4 Mutations in Amelogenesis Imperfecta.Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations.Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders
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P2860
A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.
description
article científic
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article scientifique
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articolo scientifico
@it
artigo científico
@pt
bilimsel makale
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scientific article published on 06 December 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.
@en
A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.
@en-gb
A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.
@nl
type
label
A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.
@en
A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.
@en-gb
A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.
@nl
prefLabel
A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.
@en
A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.
@en-gb
A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.
@nl
P2093
P2860
P50
P356
P1154
2-s2.0-84897885074
P1476
A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.
@en
P2093
Claire E L Smith
Layal Abi Farraj
Roger C Shore
P2860
P304
P356
10.1093/HMG/DDT616
P577
2013-12-06T00:00:00Z