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Year | Number of Results |
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1989 | 1 |
1990 | 3 |
2024 | 0 |
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Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.
Am J Hum Genet. 1990 Jun;46(6):1034-40.
Am J Hum Genet. 1990.
PMID: 2339700
Free PMC article.
Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1).
Constantinou CD, Pack M, Young SB, Prockop DJ.
Constantinou CD, et al.
Am J Hum Genet. 1990 Oct;47(4):670-9.
Am J Hum Genet. 1990.
PMID: 2220807
Free PMC article.
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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.
Constantinou CD, Nielsen KB, Prockop DJ.
Constantinou CD, et al.
J Clin Invest. 1989 Feb;83(2):574-84. doi: 10.1172/JCI113920.
J Clin Invest. 1989.
PMID: 2913053
Free PMC article.
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Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).
Cohn DH, Starman BJ, Blumberg B, Byers PH.
Cohn DH, et al.
Am J Hum Genet. 1990 Mar;46(3):591-601.
Am J Hum Genet. 1990.
PMID: 2309707
Free PMC article.
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