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Volumn 138 A, Issue 1, 2005, Pages 66-67

Analysis of RPS19 in patients with cartilage-hair hypoplasia and severe anemia: Preliminary results [2]

Author keywords

[No Author keywords available]

Indexed keywords

ANEMIA; CARTILAGE HAIR HYPOPLASIA; CARTILAGE HYPOPLASIA; CASE REPORT; CONTROLLED STUDY; EXON; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; LETTER; PRIORITY JOURNAL; RARE DISEASE; RPS19 GENE; SEQUENCE ANALYSIS;

EID: 24344445165     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30903     Document Type: Letter
Times cited : (2)

References (11)
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  • 2
    • 0028362546 scopus 로고
    • Inhibition of protein synthesis by an efficiently expressed mutation in the yeast 5.8S ribosomal RNA
    • Abou Elela S, Good L, Melekhovets YF, Nazar RN. 1994. Inhibition of protein synthesis by an efficiently expressed mutation in the yeast 5.8S ribosomal RNA. Nucleic Acids Res 22:668-693.
    • (1994) Nucleic Acids Res , vol.22 , pp. 668-693
    • Abou Elela, S.1    Good, L.2    Melekhovets, Y.F.3    Nazar, R.N.4
  • 3
    • 0024280032 scopus 로고
    • Identification of proteins of the 40 S ribosomal subunit involved in interaction with initiation factor eIF-2 in the quaternary initiation complex by means of monospecific antibodies
    • Bommer UA, Stahl J, Henske A, Lutsch G, Bielka H. 1988. Identification of proteins of the 40 S ribosomal subunit involved in interaction with initiation factor eIF-2 in the quaternary initiation complex by means of monospecific antibodies. FEBS Lett 233:114-118.
    • (1988) FEBS Lett , vol.233 , pp. 114-118
    • Bommer, U.A.1    Stahl, J.2    Henske, A.3    Lutsch, G.4    Bielka, H.5
  • 4
    • 0023283102 scopus 로고
    • A novel endoribonuclease cleaves at a priming site of mouse mitochondrial DNA replication
    • Chang DD, Clayton DA. 1987. A novel endoribonuclease cleaves at a priming site of mouse mitochondrial DNA replication. EMBO J 6:409-617.
    • (1987) EMBO J , vol.6 , pp. 409-617
    • Chang, D.D.1    Clayton, D.A.2
  • 5
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    • A nuclear function for RNase MRP
    • Clayton DA. 1994. A nuclear function for RNase MRP. Proc Natl Acad Sci USA 91:4615-4617.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 4615-4617
    • Clayton, D.A.1
  • 6
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    • A big development for a small RNA
    • Clayton DA. 2001. A big development for a small RNA. Nature 410: 29-30.
    • (2001) Nature , vol.410 , pp. 29-30
    • Clayton, D.A.1
  • 7
    • 0038383284 scopus 로고    scopus 로고
    • Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: Potential insights into pathophysiology
    • Da Costa L, Tchernia G, Gascard P, Lo A, Meerpohl J, Niemeyer C, Chasis JA, Fixler J, Mohandas N. 2003. Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: Potential insights into pathophysiology. Blood 101(12):5039-5045.
    • (2003) Blood , vol.101 , Issue.12 , pp. 5039-5045
    • Da Costa, L.1    Tchernia, G.2    Gascard, P.3    Lo, A.4    Meerpohl, J.5    Niemeyer, C.6    Chasis, J.A.7    Fixler, J.8    Mohandas, N.9
  • 10
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    • Walker, K.1    Abou Elela, S.2    Nazar, R.N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.