A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene

Human Mutation

Volumn 29, Issue 12, 2008, Pages 1392-1404

  McKnight, Dianalee A ^a   Hart, P Suzanne ^b   Hart, Thomas C ^a   Hartsfield, James K ^c   Wilson, Anne ^d   Wright, J Timothy ^e   Fisher, Larry W ^a  

^a NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c INDIANA UNIVERSITY SCHOOL OF DENTISTRY   (United States)

^d UNIVERSITY OF COLORADO SCHOOL OF DENTAL MEDICINE   (United States)

^e UNIVERSITY OF NORTH CAROLINA   (United States)

Author keywords

CpNpG methylation; Dentin dysplasia; Dentin sialophosphoprotein; Dentinogenesis imperfecta; DSPP; Epigenetics; Slip replication

Indexed keywords

AMINO ACID; BISULFITE; GENOMIC DNA; REPETITIVE DNA;

ARTICLE; BASE PAIRING; CLINICAL ARTICLE; DENTIN SIALOPHOSPHOPROTEIN GENE; EXON; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOSITY; HUMAN; HYDROPHOBICITY; MARKER GENE; METHYLATION; MISSENSE MUTATION; MOUSE STRAIN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PLANT; PRIORITY JOURNAL; PROTEIN MOTIF; PROTEIN PROCESSING; PROTEIN SECRETION; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; DENTIN DYSPLASIA; DENTINOGENESIS IMPERFECTA; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; HUMANS; MICE; MOLECULAR SEQUENCE DATA;

ANIMALIA; MUS;

EID: 56249097309     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20783     Document Type: Article

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