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Volumn 113, Issue 1, 2003, Pages 92-94

Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC

Author keywords

[No Author keywords available]

Indexed keywords

CATECHOLAMINE; SUCCINATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE (UBIQUINONE); MEMBRANE PROTEIN; SDHC PROTEIN, HUMAN;

EID: 0037594892     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-003-0938-0     Document Type: Article
Times cited : (62)

References (9)
  • 2
    • 0036712593 scopus 로고    scopus 로고
    • Hereditary paraganglioma targets diverse paraganglia
    • Baysal BE (2002) Hereditary paraganglioma targets diverse paraganglia. J Med Genet 39:617-622
    • (2002) J Med Genet , vol.39 , pp. 617-622
    • Baysal, B.E.1
  • 4
    • 0034803010 scopus 로고    scopus 로고
    • Phenotypic dichotomy in mitochondrial complex II genetic disorders
    • Baysal BE, Rubinstein WS, Taschner PE (2001) Phenotypic dichotomy in mitochondrial complex II genetic disorders. J Mol Med 79:495-503
    • (2001) J Mol Med , vol.79 , pp. 495-503
    • Baysal, B.E.1    Rubinstein, W.S.2    Taschner, P.E.3
  • 5
    • 0034908554 scopus 로고    scopus 로고
    • Nomenclature for the description of human sequence variations
    • Den Dunnen JT, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121-124
    • (2001) Hum Genet , vol.109 , pp. 121-124
    • Den Dunnen, J.T.1    Antonarakis, S.E.2
  • 6
    • 0034671551 scopus 로고    scopus 로고
    • Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma
    • Gimm O, Armanios M, Dziema H, Neumann HPH, Eng C (2000) Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. Cancer Res 60:6822-6825
    • (2000) Cancer Res , vol.60 , pp. 6822-6825
    • Gimm, O.1    Armanios, M.2    Dziema, H.3    Neumann, H.P.H.4    Eng, C.5
  • 7
    • 0033767445 scopus 로고    scopus 로고
    • Mutations in SDHC cause autosomal dominant paraganglioma, type 3
    • Niemann S, Müller U (2000) Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 26:268-270
    • (2000) Nat Genet , vol.26 , pp. 268-270
    • Niemann, S.1    Müller, U.2
  • 8
    • 0032826646 scopus 로고    scopus 로고
    • PGL3, a third, not maternally imprinted locus in autosomal dominant paraganglioma
    • Niemann S, Steinberger D, Müller U (1999) PGL3, a third, not maternally imprinted locus in autosomal dominant paraganglioma. Neurogenetics 2:167-170
    • (1999) Neurogenetics , vol.2 , pp. 167-170
    • Niemann, S.1    Steinberger, D.2    Müller, U.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.