Related references
Note: Only part of the references are listed.Alteration of Exon Definition Causes Amelogenesis Imperfecta
Y. J. Kim et al.
JOURNAL OF DENTAL RESEARCH (2020)
Mutations in RELT cause autosomal recessive amelogenesis imperfecta
Jung-Wook Kim et al.
CLINICAL GENETICS (2019)
Database resources of the National Center for Biotechnology Information
Eric W. Sayers et al.
NUCLEIC ACIDS RESEARCH (2019)
CADD: predicting the deleteriousness of variants throughout the human genome
Philipp Rentzsch et al.
NUCLEIC ACIDS RESEARCH (2019)
Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta
Claire E. L. Smith et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
Testicular acid phosphatase induces odontoblast differentiation and mineralization
Hwajung Choi et al.
CELL AND TISSUE RESEARCH (2016)
Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta
Figen Seymen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Novel MMP20 and KLK4 Mutations in Amelogenesis Imperfecta
F. Seymen et al.
JOURNAL OF DENTAL RESEARCH (2015)
Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta
James A. Poulter et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta
Shih-Kai Wang et al.
HUMAN MOLECULAR GENETICS (2014)
A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta
James A. Poulter et al.
HUMAN MOLECULAR GENETICS (2014)
Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta
James A. Poulter et al.
HUMAN MOLECULAR GENETICS (2014)
Review of research on the mechanical properties of the human tooth
Ya-Rong Zhang et al.
INTERNATIONAL JOURNAL OF ORAL SCIENCE (2014)
Identification of Mutations in SLC24A4, Encoding a Potassium-Dependent Sodium/Calcium Exchanger, as a Cause of Amelogenesis Imperfecta
David A. Parry et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
FishingCNV: a graphical software package for detecting rare copy number variations in exome-sequencing data
Yuhao Shi et al.
BIOINFORMATICS (2013)
Human Prostatic Acid Phosphatase: Structure, Function and Regulation
Sakthivel Muniyan et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2013)
LAMB3 Mutations Causing Autosomal-dominant Amelogenesis Imperfecta
J. W. Kim et al.
JOURNAL OF DENTAL RESEARCH (2013)
Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta
David A. Parry et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data
Heng Li
BIOINFORMATICS (2011)
Fast and accurate long-read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2010)
Regulation of Dental Enamel Shape and Hardness
J. P. Simmer et al.
JOURNAL OF DENTAL RESEARCH (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
MutationTaster evaluates disease-causing potential of sequence alterations
Jana Marie Schwarz et al.
NATURE METHODS (2010)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
NUCLEIC ACIDS RESEARCH (2010)
FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta
Jung-Wook Kim et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
The histidine phosphatase superfamily: structure and function
Daniel J. Rigden
BIOCHEMICAL JOURNAL (2008)
MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta
JW Kim et al.
JOURNAL OF MEDICAL GENETICS (2005)
Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta
PS Hart et al.
JOURNAL OF MEDICAL GENETICS (2004)
Cooperative kinetics of human prostatic acid phosphatase
E Luchter-Wasylewska
BIOCHIMICA ET BIOPHYSICA ACTA-PROTEIN STRUCTURE AND MOLECULAR ENZYMOLOGY (2001)
Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta
MH Rajpar et al.
HUMAN MOLECULAR GENETICS (2001)
Molecular cloning of a novel human acid phosphatase gene (ACPT) that is highly expressed in the testis
GM Yousef et al.
GENOMICS (2001)
Share Paper
