Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II

Clinical Genetics

Volumn 79, Issue 4, 2011, Pages 378-384

  Lee, K E ^a   Kang, H Y ^a   Lee, S K ^a   Yoo, S H ^b   Lee, J C ^c   Hwang, Y H ^a   Nam, K H ^a   Kim, J S ^b   Park, J C ^a   Kim, J W ^a  

^a Seoul National University   (South Korea)

^b Dankook University   (South Korea)

^c Seoul Children's Dental Center   (South Korea)

Author keywords

Dentin dysplasia; Dentin sialophosphoprotein; Dentinogenesis imperfecta; Frameshift mutation

Indexed keywords

AMINO ACID; DENTIN SIALOPHOSPHOPROTEIN; PHOSPHOPROTEIN; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID COMPOSITION; ARTICLE; BASE PAIRING; BIOMINERALIZATION; CHILD; CLINICAL ARTICLE; DENTIN; DENTINOGENESIS IMPERFECTA TYPE II; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HUMAN; HYDROPHILICITY; HYDROPHOBICITY; INTRON; MALE; MOLECULAR CLONING; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TOOTH DEVELOPMENT; TOOTH DISCOLORATION; TOOTH ERUPTION; TOOTH MALFORMATION;

BASE SEQUENCE; DENTINOGENESIS IMPERFECTA; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FAMILY HEALTH; FEMALE; FRAMESHIFT MUTATION; HUMANS; KOREA; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PHOSPHOPROTEINS; SEQUENCE DELETION; SIALOGLYCOPROTEINS;

EID: 79952216125     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01483.x     Document Type: Article

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