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Volumn 50, Issue 7, 2002, Pages 877-884

Detection of pyruvate dehydrogenase E1α-subunit deficiencies in females by immunohistochemical demonstration of mosaicism in cultured fibroblasts

Author keywords

E1 subunit; Immunocytochemical analysis; Mosaicism; Pyruvate dehydrogenase complex deficiency; X linked pyruvate dehydrogenase

Indexed keywords

MONOCLONAL ANTIBODY; PYRUVATE DEHYDROGENASE; PYRUVATE DEHYDROGENASE E1ALPHA; UNCLASSIFIED DRUG;

EID: 0036068958     PISSN: 00221554     EISSN: None     Source Type: Journal    
DOI: 10.1177/002215540205000701     Document Type: Article
Times cited : (18)

References (34)
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    • Complexities of the pyruvate dehydrogenase complex
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    • De Vivo, D.C.1
  • 23
    • 0024843533 scopus 로고
    • Pyruvate dehydrogenase complex deficiency: Biochemical and immunoblot analysis of cultured skin fibroblasts
    • (1989) Ann Neurol , vol.26 , pp. 746-751
    • Old, S.E.1    De Vivo, D.C.2
  • 24
    • 0031780681 scopus 로고    scopus 로고
    • Arginine 302 mutations in the pyruvate dehydrogenase E1 alpha subunit gene: Identification of further patients and in vitro demonstration of pathogenicity
    • (1998) Hum Mutat , vol.12 , pp. 114-121
    • Otero, L.J.1    Brown, R.M.2    Brown, G.K.3
  • 25
    • 0028979684 scopus 로고
    • Mammalian alpha-keto acid dehydrogenase complexes: Gene regulation and genetic defects
    • (1995) FASEB J , vol.9 , pp. 1164-1172
    • Patel, M.S.1    Harris, R.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.