Somatic cell mosaicism: Another source of phenotypic heterogeneity in nuclear families with osteogenesis imperfecta
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference23 articles.
1. Homozygous osteogenesis imperfecta unlinked to collagen I genes
2. Brittle bones - fragile molecules: disorders of collagen gene structure and expression
3. A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen.
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2. Osteogenesis Imperfecta;Pediatric Bone;2012
3. Correction of a mineralization defect by overexpression of a wild-type cDNA for COL1A1 in marrow stromal cells (MSCs) from a patient with osteogenesis imperfecta: a strategy for rescuing mutations that produce dominant-negative protein defects;Gene Therapy;2005-04-07
4. Osteogenesis Imperfecta;Pediatric Bone;2003
5. Osteogenesis Imperfecta and Other Defects of Bone Development as Occasional Causes of Adult Osteoporosis;Osteoporosis;2001
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