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Volumn 116, Issue 2, 2007, Pages 261-262

Acute myocardial infarction and a new ABCC6 mutation in a 16-year-old boy with pseudoxanthoma elasticum

Author keywords

ABCC6 gene; Acute myocardial infarction; Coronary artery disease; Pseudoxanthoma elasticum

Indexed keywords

ABCC6 GENE; ACUTE HEART INFARCTION; ADOLESCENT; ANGIOCARDIOGRAPHY; ARTICLE; CASE REPORT; CLINICAL FEATURE; CORONARY ARTERY DISEASE; EXON; EYE DISEASE; GENE; GENE MUTATION; HEART ARREST; HEART VENTRICLE FIBRILLATION; HETEROZYGOSITY; HOSPITAL ADMISSION; HUMAN; INTENSIVE CARE UNIT; MALE; MISSENSE MUTATION; NONSENSE MUTATION; OPHTHALMOSCOPY; PRIORITY JOURNAL; PSEUDOXANTHOMA ELASTICUM; SKIN DISEASE; SURVIVOR;

EID: 33846924268     PISSN: 01675273     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijcard.2006.02.022     Document Type: Article
Times cited : (14)

References (6)
  • 2
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    • A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum
    • Le Saux O., Beck K., Sachsinger C., et al. A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am J Hum Genet 69 (2001) 749-764
    • (2001) Am J Hum Genet , vol.69 , pp. 749-764
    • Le Saux, O.1    Beck, K.2    Sachsinger, C.3
  • 3
    • 0037367740 scopus 로고    scopus 로고
    • ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum
    • Hu X., Plomp A., Wijnholds J., et al. ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum. Eur J Hum Genet 11 (2003) 215-224
    • (2003) Eur J Hum Genet , vol.11 , pp. 215-224
    • Hu, X.1    Plomp, A.2    Wijnholds, J.3
  • 4
    • 17044399328 scopus 로고    scopus 로고
    • Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no pseudoxanthoma elasticum phenotype
    • Wegman J.J., Hu X., Tan H., et al. Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no pseudoxanthoma elasticum phenotype. Int J Cardiol 100 (2005) 389-393
    • (2005) Int J Cardiol , vol.100 , pp. 389-393
    • Wegman, J.J.1    Hu, X.2    Tan, H.3
  • 5
    • 24344487872 scopus 로고    scopus 로고
    • Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6
    • Miksch S., Lumsden A., Guenther U.P., et al. Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. Hum Mutat 26 (2005) 235-248
    • (2005) Hum Mutat , vol.26 , pp. 235-248
    • Miksch, S.1    Lumsden, A.2    Guenther, U.P.3
  • 6
    • 19944426114 scopus 로고    scopus 로고
    • Identification of two novel missense mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) gene in a Japanese patient with pseudoxanthoma elasticum (PXE)
    • Noji Y., Inazu A., Higashikata T., et al. Identification of two novel missense mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) gene in a Japanese patient with pseudoxanthoma elasticum (PXE). Intern Med 43 (2004) 1171-1176
    • (2004) Intern Med , vol.43 , pp. 1171-1176
    • Noji, Y.1    Inazu, A.2    Higashikata, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.