A novel mutation in the SH3BP2 gene causes cherubism: Case report

BMC Medical Genetics

Volumn 7, Issue , 2006, Pages

  Li, Cui Ying ^a   Yu, Shi Feng ^a  

^a PEKING UNIVERSITY SCHOOL AND HOSPITAL OF STOMATOLOGY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ASPARTIC ACID; BINDING PROTEIN; GLUTAMINE; GUANINE; PROTEIN SH3 BINDING PROTEIN 2; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHINA; EXON; FAMILY STUDY; FEMALE; FIBROUS DYSPLASIA; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; JAW CYST; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; SEQUENCE ANALYSIS;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CHERUBISM; CHILD; CHINA; EXONS; FEMALE; HUMANS; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SRC HOMOLOGY DOMAINS;

EID: 33846649658     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-7-84     Document Type: Article

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