Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta

BMC Medical Genetics

Volumn 12, Issue , 2011, Pages

  Steinlein, Ortrud K ^a   Aichinger, Eric ^a   Trucks, Holger ^b   Sander, Thomas ^b  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY OF COLOGNE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

FKBP10 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; FK 506 BINDING PROTEIN; FKBP10 PROTEIN, HUMAN;

ADULT; ARTICLE; BASE PAIRING; CASE REPORT; CHROMOSOME 11Q; CHROMOSOME 17Q; CODON; CONTRACTURE; DECIDUOUS TOOTH; DISEASE SEVERITY; EXON; FOLLOW UP; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; HOMOZYGOSITY; HUMAN; MALE; OSTEOGENESIS IMPERFECTA; PRENATAL DEVELOPMENT; PROTEIN ANALYSIS; PROTEIN FUNCTION; SHORT STATURE; ARTHROGRYPOSIS; FEMALE; GENETICS; HOMOZYGOTE; MIDDLE AGED; MUTATION; PEDIGREE; STOP CODON;

ADULT; ARTHROGRYPOSIS; CODON, TERMINATOR; FEMALE; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; OSTEOGENESIS IMPERFECTA; PEDIGREE; TACROLIMUS BINDING PROTEINS;

EID: 81455160593     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-12-152     Document Type: Article

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