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Volumn 3, Issue , 2002, Pages

Cloning and characterization of the mouse Mcoln 1 gene reveals an alternatively spliced transcript not seen in humans

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; MEMBRANE PROTEIN; NUCLEOTIDE; PROTEIN MCOLN 1; UNCLASSIFIED DRUG;

EID: 9444288084     PISSN: 14712164     EISSN: None     Source Type: Journal    
DOI: 10.1186/1471-2164-3-3     Document Type: Article
Times cited : (19)

References (18)
  • 1
    • 0023230993 scopus 로고
    • Mucolipidosis Type IV: Clinical Spectrum and Natural History
    • Amir N, Zlotogora J, Bach G: Mucolipidosis Type IV: Clinical Spectrum and Natural History. Pediatrics 1987, 79: 953-959
    • (1987) Pediatrics , vol.79 , pp. 953-959
    • Amir, N.1    Zlotogora, J.2    Bach, G.3
  • 3
    • 0016055082 scopus 로고
    • Congenital corneal clouding with abnormal systemic storage bodies: A new variant of Mucolipidosis
    • Berman ER, Livni N, Shapira E, Merin S, Levij IS: Congenital corneal clouding with abnormal systemic storage bodies: a new variant of Mucolipidosis. J Pediatr 1974, 84: 519-526
    • (1974) J. Pediatr. , vol.84 , pp. 519-526
    • Berman, E.R.1    Livni, N.2    Shapira, E.3    Merin, S.4    Levij, I.S.5
  • 5
    • 0017281345 scopus 로고
    • Mucolipidosis IV. Clinical, ultrastructural, histochemical, and chemical studies of a case, including a brain biopsy
    • Tellez-Nagel I, Rapin I, Iwamoto T, Johnson AB, Norton WT, Nitowsky H: Mucolipidosis IV. Clinical, ultrastructural, histochemical, and chemical studies of a case, including a brain biopsy. Arch Neurol 1976, 33: 828-835
    • (1976) Arch. Neurol. , vol.33 , pp. 828-835
    • Tellez-Nagel, I.1    Rapin, I.2    Iwamoto, T.3    Johnson, A.B.4    Norton, W.T.5    Nitowsky, H.6
  • 8
    • 0033760264 scopus 로고    scopus 로고
    • Cloning of the gene encoding a novel integral membrane protein, mucolipidin-1 and identification of the two major founder mutations causing Mucolipidosis type IV
    • Bassi MT, Manzoni M, Monti E, Pizzo MT, Ballabio A, Borsani G: Cloning of the gene encoding a novel integral membrane protein, mucolipidin-1 and identification of the two major founder mutations causing Mucolipidosis type IV. Am J Hum Genet 2000, 67: 1110-1120
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 1110-1120
    • Bassi, M.T.1    Manzoni, M.2    Monti, E.3    Pizzo, M.T.4    Ballabio, A.5    Borsani, G.6
  • 11
    • 0030805283 scopus 로고    scopus 로고
    • Mucolipidosis type IV: Abnormal transport of lipids to lysosomes
    • Bargal R, Bach G: Mucolipidosis type IV: abnormal transport of lipids to lysosomes. J Inherit Metab Dis 1997, 20: 625-632
    • (1997) J. Inherit. Metab. Dis. , vol.20 , pp. 625-632
    • Bargal, R.1    Bach, G.2
  • 12
    • 0032568565 scopus 로고    scopus 로고
    • Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease
    • Chen CS, Bach G, Pagano RE: Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease. Proc Natl Acad Sci 1998, 95: 6373-6378
    • (1998) Proc. Natl. Acad. Sci. , vol.95 , pp. 6373-6378
    • Chen, C.S.1    Bach, G.2    Pagano, R.E.3
  • 13
    • 0035031192 scopus 로고    scopus 로고
    • Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog
    • Fares H, Greenwald I:Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog. Nat Genet 2001, 28: 64-68
    • (2001) Nat. Genet. , vol.28 , pp. 64-68
    • Fares, H.1    Greenwald, I.2
  • 17
    • 0030002738 scopus 로고    scopus 로고
    • Myelin/oligodendrocyte glycoprotein is alternatively spliced in humans but not mice
    • Ballenthin PA, Gardinier MV: Myelin/oligodendrocyte glycoprotein is alternatively spliced in humans but not mice. J Neurosci Res 1996, 46: 271-281
    • (1996) J. Neurosci. Res. , vol.46 , pp. 271-281
    • Ballenthin, P.A.1    Gardinier, M.V.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.