Heritable Disorders of Connective Tissue
作者： Reed Edwin Pyeritz
DOI: 10.1007/978-0-387-68566-3_31
关键词: Genetics 、 Marfan syndrome 、 Connective tissue metabolism 、 Osteogenesis imperfecta 、 Genetic heterogeneity 、 Biology 、 Gene 、 Extracellular matrix 、 Pseudoxanthoma elasticum 、 Connective tissue
摘要: The molecular composition and organization of connective tissue, known as the extracellular matrix, are extraordinarily complex. Much remains unknown about number, structure, map location, regulation genes that control synthesis, organization, metabolism this ubiquitous tissue. However, specify several hundred proteins involved in tissue skeletal development have been mapped (1). Mutations for these cause a variety disorders. heritable disorders (HDCT) follow Mendel’s laws, but like many such disorders, show both considerable variability within among families genetic heterogeneity (2,3).
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