The first glycine‐to‐tryptophan substitution in the COL1A1 gene identified in a patient with progressively‐deforming Osteogenesis imperfecta
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DOI: 10.1002/mgg3.1996
Abstract: Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue with variable phenotype and heterogeneous genetic background. Majority of reported mutations are glycine substitutions, whose clinical outcome ranges from mild to perinatal lethal. The phenotype… read more here.
Keywords: glycine tryptophan; col1a1 gene; osteogenesis imperfecta;
Re: Long-term evaluation of anabolic and anti-resorptive agents in adults with familial osteoporosis due to pro205ala variant of the col1a1 gene
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DOI: 10.1007/s00198-022-06334-w
Abstract: You recently published a paper entitled “Long-term evaluation of anabolic and anti-resorptive agents in adults with familial osteoporosis due to pro205ala variant of the col1a1 gene” (https:// link. sprin ger. com/ artic le/ 10. 1007/… read more here.
Keywords: col1a1 gene; long term; osteoporosis; variant col1a1 ... See more keywords
Identification of a Rare Variant of c.1777G>A (p.G593S) in the COL1A1 Gene as the Etiology of Recurrent Osteogenesis Imperfecta by Whole-Exome Sequencing
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.816090
Abstract: Background Osteogenesis imperfecta (OI) is a rare heterogeneous disorder typically featured by fragile bones and susceptibility to fracture. The aim of the present study was to explore the genetic etiology of familial recurrent OI and… read more here.
Keywords: rare variant; variant 1777g; etiology; col1a1 gene ... See more keywords