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Volumn 90, Issue 1, 2012, Pages 86-90

De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE; ASPARTIC ACID; COLLAGEN TYPE 4; CYTOSINE; GLUTAMINE; GLYCINE; MEMBRANE PROTEIN;

EID: 84855852624     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.11.016     Document Type: Article
Times cited : (79)

References (18)
  • 3
    • 84855830033 scopus 로고    scopus 로고
    • Porencephaly
    • S. Re, H. Jg, Oxford University Press New York
    • A. Hunter Porencephaly S. Re, H. Jg, Human Malformations and related Anomalies 2006 Oxford University Press New York 645 654
    • (2006) Human Malformations and Related Anomalies , pp. 645-654
    • Hunter, A.1
  • 6
    • 0142073808 scopus 로고    scopus 로고
    • Intracranial hemorrhage progressing to porencephaly as a result of congenitally acquired cytomegalovirus infection - An illustrative report
    • DOI 10.1002/pd.688
    • A. Moinuddin, R.C. McKinstry, K.A. Martin, and J.J. Neil Intracranial hemorrhage progressing to porencephaly as a result of congenitally acquired cytomegalovirus infection - an illustrative report Prenat. Diagn. 23 2003 797 800 (Pubitemid 37279863)
    • (2003) Prenatal Diagnosis , vol.23 , Issue.10 , pp. 797-800
    • Moinuddin, A.1    McKinstry, R.C.2    Martin, K.A.3    Neil, J.J.4
  • 9
    • 77955173802 scopus 로고    scopus 로고
    • COL4A1 mutations as a monogenic cause of cerebral small vessel disease: A systematic review
    • S. Lanfranconi, and H.S. Markus COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review Stroke 41 2010 e513 e518
    • (2010) Stroke , vol.41
    • Lanfranconi, S.1    Markus, H.S.2
  • 12
    • 0025904728 scopus 로고
    • The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper
    • J. Engel, and D.J. Prockop The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper Annu. Rev. Biophys. Biophys. Chem. 20 1991 137 152
    • (1991) Annu. Rev. Biophys. Biophys. Chem. , vol.20 , pp. 137-152
    • Engel, J.1    Prockop, D.J.2
  • 13
    • 0012441397 scopus 로고    scopus 로고
    • Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans
    • A. Gajko-Galicka Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans Acta Biochim. Pol. 49 2002 433 441 (Pubitemid 135686790)
    • (2002) Acta Biochimica Polonica , vol.49 , Issue.2 , pp. 433-441
    • Gajko-Galicka, A.1
  • 14
    • 34247866422 scopus 로고    scopus 로고
    • Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: An extension of the Col4a1 allelic series and the identification of the first two Col4a2 mutant alleles
    • DOI 10.1534/genetics.106.064733
    • J. Favor, C.J. Gloeckner, D. Janik, M. Klempt, A. Neuhäuser-Klaus, W. Pretsch, W. Schmahl, and L. Quintanilla-Fend Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identification of the first two Col4a2 mutant alleles Genetics 175 2007 725 736 (Pubitemid 46798271)
    • (2007) Genetics , vol.175 , Issue.2 , pp. 725-736
    • Favor, J.1    Gloeckner, C.J.2    Janik, D.3    Klempt, M.4    Neuhauser-Klaus, A.5    Pretsch, W.6    Schmahl, W.7    Quintanilla-Fend, L.8
  • 15
    • 78651387761 scopus 로고    scopus 로고
    • Clinical spectrum of type IV collagen (COL4A1) mutations: A novel genetic multisystem disease
    • K. Vahedi, and S. Alamowitch Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease Curr. Opin. Neurol. 24 2011 63 68
    • (2011) Curr. Opin. Neurol. , vol.24 , pp. 63-68
    • Vahedi, K.1    Alamowitch, S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.