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Year | Number of Results |
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2007 | 1 |
2008 | 2 |
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Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.
Nat Genet. 2007 Mar;39(3):359-65. doi: 10.1038/ng1968. Epub 2007 Feb 4.
Nat Genet. 2007.
PMID: 17277775
Free PMC article.
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
Baldridge D, Schwarze U, Morello R, Lennington J, Bertin TK, Pace JM, Pepin MG, Weis M, Eyre DR, Walsh J, Lambert D, Green A, Robinson H, Michelson M, Houge G, Lindman C, Martin J, Ward J, Lemyre E, Mitchell JJ, Krakow D, Rimoin DL, Cohn DH, Byers PH, Lee B.
Baldridge D, et al.
Hum Mutat. 2008 Dec;29(12):1435-42. doi: 10.1002/humu.20799.
Hum Mutat. 2008.
PMID: 18566967
Free PMC article.
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Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation.
Willaert A, Malfait F, Symoens S, Gevaert K, Kayserili H, Megarbane A, Mortier G, Leroy JG, Coucke PJ, De Paepe A.
Willaert A, et al.
J Med Genet. 2009 Apr;46(4):233-41. doi: 10.1136/jmg.2008.062729. Epub 2008 Dec 16.
J Med Genet. 2009.
PMID: 19088120
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A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta.
Cabral WA, Barnes AM, Adeyemo A, Cushing K, Chitayat D, Porter FD, Panny SR, Gulamali-Majid F, Tishkoff SA, Rebbeck TR, Gueye SM, Bailey-Wilson JE, Brody LC, Rotimi CN, Marini JC.
Cabral WA, et al.
Genet Med. 2012 May;14(5):543-51. doi: 10.1038/gim.2011.44. Epub 2012 Jan 26.
Genet Med. 2012.
PMID: 22281939
Free PMC article.
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