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Year | Number of Results |
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1998 | 1 |
2000 | 1 |
2005 | 1 |
2024 | 0 |
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Splicing in action: assessing disease causing sequence changes.
J Med Genet. 2005 Oct;42(10):737-48. doi: 10.1136/jmg.2004.029538.
J Med Genet. 2005.
PMID: 16199547
Free PMC article.
Review.
Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.
Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD.
Wassif CA, et al.
Am J Hum Genet. 1998 Jul;63(1):55-62. doi: 10.1086/301936.
Am J Hum Genet. 1998.
PMID: 9634533
Free PMC article.
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Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
Witsch-Baumgartner M, Fitzky BU, Ogorelkova M, Kraft HG, Moebius FF, Glossmann H, Seedorf U, Gillessen-Kaesbach G, Hoffmann GF, Clayton P, Kelley RI, Utermann G.
Witsch-Baumgartner M, et al.
Am J Hum Genet. 2000 Feb;66(2):402-12. doi: 10.1086/302760.
Am J Hum Genet. 2000.
PMID: 10677299
Free PMC article.
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