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Journal Abstract Search

222 related items for PubMed ID: 12436246

  • 21. Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: a splice junction mutation in intron 5 and cluster of four mutations in exon 15.
    Bodzioch M, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.
    Hum Mutat; 2001; 17(1):72. PubMed ID: 11139246
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  • 27. A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment.
    Davis RL, Homer VM, George PM, Brennan SO.
    Hum Mutat; 2009 Feb; 30(2):221-7. PubMed ID: 18853456
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  • 30. Persistent Mullerian duct syndrome caused by both a 27-bp deletion and a novel splice mutation in the MIS type II receptor gene.
    Hoshiya M, Christian BP, Cromie WJ, Kim H, Zhan Y, MacLaughlin DT, Donahoe PK.
    Birth Defects Res A Clin Mol Teratol; 2003 Oct; 67(10):868-74. PubMed ID: 14745940
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  • 31. Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.
    Antignac C, Knebelmann B, Drouot L, Gros F, Deschênes G, Hors-Cayla MC, Zhou J, Tryggvason K, Grünfeld JP, Broyer M.
    J Clin Invest; 1994 Mar; 93(3):1195-207. PubMed ID: 8132760
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  • 33. Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing.
    Hübner CA, Utermann B, Tinschert S, Krüger G, Ressler B, Steglich C, Schinzel A, Gal A.
    Hum Mutat; 2004 May; 23(5):526. PubMed ID: 15108295
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  • 34. Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site.
    Ma HW, Jiang J, Lu JF, Guo R, Niu GH.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Jun; 22(3):251-3. PubMed ID: 15952107
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  • 36. Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.
    Ogino W, Takeshima Y, Nishiyama A, Okizuka Y, Yagi M, Tsuneishi S, Saiki K, Kugo M, Matsuo M.
    Kobe J Med Sci; 2007 Jun; 53(5):229-40. PubMed ID: 18204299
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  • 37. Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.
    Wang F, Wang Y, Ding J, Yang J.
    Kidney Int; 2005 Apr; 67(4):1268-74. PubMed ID: 15780079
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  • 38. Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.
    Meili D, Kralovicova J, Zagalak J, Bonafé L, Fiori L, Blau N, Thöny B, Vorechovsky I.
    Hum Mutat; 2009 May; 30(5):823-31. PubMed ID: 19280650
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