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Volumn 28, Issue 6, 2011, Pages 705-707

Mutation analysis of FGFR3 gene in a family featuring hereditary dwarfism

Author keywords

Dwarfism; FGFR3 gene; Hypochondroplasia; Mutation

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 3; GENOMIC DNA;

EID: 84855283146     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.1003-9406.2011.06.024     Document Type: Article
Times cited : (2)

References (8)
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  • 3
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    • Li C, Chen L, Iwata T, et al. A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors. Hum Mol Genet, 1999, 8:35-44. (Pubitemid 29039046)
    • (1999) Human Molecular Genetics , vol.8 , Issue.1 , pp. 35-44
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  • 4
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    • Roles of FGF Receptors in Mammalian Development and Congenital Diseases
    • DOI 10.1002/bdrc.10025
    • Coumoul X, Deng CX. Roles of FGF receptors in mammalian development and congenital diseases. Birth Defects Res C Embryo Today, 2003, 69:286-304. (Pubitemid 38076453)
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  • 5
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    • Clinical and genetic heterogeneityof hypochondroplasia
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    • Rousseau, F.1    Bonaventure, J.2    Legeai-Mallet, L.3
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    • Distinct missense mutations of the FGFR3 Lys 650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia
    • Bellus G, Spector EB, Speiser P, et al. Distinct missense mutations of the FGFR3 Lys 650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia. Am J Hum Genet, 2000, 67:1411-1421.
    • (2000) Am J Hum Genet , vol.67 , pp. 1411-1421
    • Bellus, G.1    Spector, E.B.2    Speiser, P.3
  • 8
    • 0034707489 scopus 로고    scopus 로고
    • A novel mutation in FGFR3 disrupts a putative N-glycosylation site and results in hypochondroplasia
    • Winterpacht A, Hilbert K, Stelzer C, et al. A novel mutation in FGFR3 disrupts a putative N-glycosylation site and results in hypochondroplasia. Physiol Genomics, 2000, 2:9-12.
    • (2000) Physiol Genomics , vol.2 , pp. 9-12
    • Winterpacht, A.1    Hilbert, K.2    Stelzer, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.