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Journal Abstract Search

155 related items for PubMed ID: 12567415

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  • 3. Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata.
    Daniele A, Parenti G, d'Addio M, Andria G, Ballabio A, Meroni G.
    Am J Hum Genet; 1998 Mar; 62(3):562-72. PubMed ID: 9497243
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  • 5. Clinical and genetic analysis of a Korean patient with X-linked chondrodysplasia punctata: identification of a novel splicing mutation in the ARSE gene.
    Jeon GW, Kwon MJ, Lee SJ, Sin JB, Ki CS.
    Ann Clin Lab Sci; 2013 Mar; 43(1):70-5. PubMed ID: 23462608
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  • 9. A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy.
    Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA, Andria G, Petit C, Ballabio A.
    Cell; 1995 Apr 07; 81(1):15-25. PubMed ID: 7720070
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  • 10. Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region.
    Puca AA, Zollo M, Repetto M, Andolfi G, Guffanti A, Simon G, Ballabio A, Franco B.
    Genomics; 1997 Jun 01; 42(2):192-9. PubMed ID: 9192838
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  • 20. Refinement of the locus for X-linked recessive chondrodysplasia punctata.
    Muroya K, Ogata T, Rappold G, Klink A, Nakahori Y, Fukushima Y, Aizu K, Matsuo N.
    Hum Genet; 1995 May 01; 95(5):577-80. PubMed ID: 7759082
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