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New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new <i>Nci</i>l site the same as L444P
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1994
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In Vivo Gene TherapyGeneticsMolecular BiologyPathologyMolecular GeneticsExon 10Disease Gene IdentificationGenomicsNovel L444r MutationGenetic MedicineClinical GeneticsGenetic DiseasesMendelian DisorderTranslational BiologyMolecular DiagnosticsVariant InterpretationInherited Metabolic DiseaseMolecular MedicineMolecular Diagnostic TechniquesNew Ncil SiteGenetic DisorderPathogenesisMedical GeneticsMedicineLysosomal Storage DiseaseMutagenesis
Journal Article New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new Ncil site the same as L444P Get access Atsushi Uchiyama, Atsushi Uchiyama * *To whom correspondence should be addressed Search for other works by this author on: Oxford Academic PubMed Google Scholar Shunji Tomatsu, Shunji Tomatsu Search for other works by this author on: Oxford Academic PubMed Google Scholar Naomi Kondo, Naomi Kondo Search for other works by this author on: Oxford Academic PubMed Google Scholar Yasuyuki Suzuki, Yasuyuki Suzuki Search for other works by this author on: Oxford Academic PubMed Google Scholar Nobuyukl Shlmozawa, Nobuyukl Shlmozawa Search for other works by this author on: Oxford Academic PubMed Google Scholar Seijl Fukuda, Seijl Fukuda Search for other works by this author on: Oxford Academic PubMed Google Scholar Kazuko Sukegawa, Kazuko Sukegawa Search for other works by this author on: Oxford Academic PubMed Google Scholar Norio Taki, Norio Taki 1Department of Pediatrics, Mie University School of Medicine2-174 Edobashi Tsu-shi, Mie, Japan Search for other works by this author on: Oxford Academic PubMed Google Scholar Hldeki Inamorl, Hldeki Inamorl 1Department of Pediatrics, Mie University School of Medicine2-174 Edobashi Tsu-shi, Mie, Japan Search for other works by this author on: Oxford Academic PubMed Google Scholar Tadao Orii Tadao Orii Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 3, Issue 7, July 1994, Pages 1183–1184, https://doi.org/10.1093/hmg/3.7.1183 Published: 01 July 1994 Article history Received: 09 March 1994 Revision received: 20 April 1994 Accepted: 20 April 1994 Published: 01 July 1994