Recessively inherited forms of osteogenesis imperfecta

Annual Review of Genetics

Volumn 46, Issue , 2012, Pages 475-497

  Byers, Peter H ^a   Pyott, Shawna M ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARTILAGE ASSOCIATED PROTEIN; COLLAGEN FIBRIL; FKBP10 PROTEIN; FKBP65 PROTEIN; HEAT SHOCK PROTEIN 47; LYSYL HYDROXYLASE 1; LYSYL HYDROXYLASE 2; MESSENGER RNA; PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE; PROLINE 3 HYDROXYLASE; PROTEIN; UNCLASSIFIED DRUG;

ALLELE; CHROMOSOME 17; DISEASE CLASSIFICATION; EHLERS DANLOS SYNDROME; ENZYME INACTIVATION; EXTRACELLULAR MATRIX; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GOLGI COMPLEX; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HYDROXYLATION; MISSENSE MUTATION; NULL ALLELE; OSTEOGENESIS IMPERFECTA; OSTEOSARCOMA; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN CROSS LINKING; RECESSIVE INHERITANCE; REVIEW; RNA STABILITY; ROUGH ENDOPLASMIC RETICULUM; TRIPLE HELIX;

ALLELES; COLLAGEN TYPE I; FRACTURES, BONE; GENE FREQUENCY; GENES, RECESSIVE; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; GENETICS, POPULATION; HETEROZYGOTE; HSP47 HEAT-SHOCK PROTEINS; HUMANS; INHERITANCE PATTERNS; MUTATION; OSTEOGENESIS IMPERFECTA; PHENOTYPE; PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; PROCOLLAGEN-PROLINE DIOXYGENASE; TACROLIMUS BINDING PROTEINS;

EID: 84870166972     PISSN: 00664197     EISSN: 15452948     Source Type: Book Series    
DOI: 10.1146/annurev-genet-110711-155608     Document Type: Review

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