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Volumn 71, Issue 5, 2007, Pages 468-470

RMRP mutations in hematological disorders [1]

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKINE; GENE PRODUCT; GENOMIC DNA; RIBONUCLEASE MITOCHONDRIAL RNA PROCESSING PROTEIN; RNA 5.8S; UNCLASSIFIED DRUG;

EID: 34248326908     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00776.x     Document Type: Letter
Times cited : (3)

References (14)
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  • 3
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    • Makitie O. Cartilage-hair hypoplasia in Finland: Epidemiological and genetic aspects of 107 patients. J Med Genet 1992: 29: 652-655.
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    • Makitie, O.1
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  • 6
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    • SNP500Cancer: A public resource for sequence validation and assay development for genetic variation in candidate genes
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  • 7
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    • Bonafe L, Schmitt K, Eich G, Giedion A, Superti-Furga A. RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. Clin Genet 2002: 61: 146-151.
    • (2002) Clin Genet , vol.61 , pp. 146-151
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  • 8
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    • Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia
    • Hermanns P, Bertuch AA, Bertin TK et al. Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. Hum Mol Genet 2005: 14: 3723-3740.
    • (2005) Hum Mol Genet , vol.14 , pp. 3723-3740
    • Hermanns, P.1    Bertuch, A.A.2    Bertin, T.K.3
  • 9
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    • Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia
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  • 10
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.