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CLINICAL, ULTRASTRUCTURAL AND BIOCHEMICAL-STUDIES IN 2 SIBS WITH EHLERS-DANLOS-SYNDROME TYPE-VI-B-LIKE FEATURES

dc.contributor.authorSTEINMANN, B
dc.contributor.authorYUKSELAPAK, M
dc.contributor.authorDEPAEPE, A
dc.contributor.authorQUATACKER, J
dc.contributor.authorKUSEYRI, F
dc.contributor.authorOGUR, G
dc.contributor.authorBAYKAN, N
dc.date.accessioned2021-03-06T10:45:29Z
dc.date.available2021-03-06T10:45:29Z
dc.date.issued1994
dc.identifier.citationOGUR G., BAYKAN N., DEPAEPE A., STEINMANN B., QUATACKER J., KUSEYRI F., YUKSELAPAK M., "CLINICAL, ULTRASTRUCTURAL AND BIOCHEMICAL-STUDIES IN 2 SIBS WITH EHLERS-DANLOS-SYNDROME TYPE-VI-B-LIKE FEATURES", CLINICAL GENETICS, cilt.46, ss.417-422, 1994
dc.identifier.issn0009-9163
dc.identifier.othervv_1032021
dc.identifier.otherav_ebecd342-6d36-40aa-9ff3-523d01ca19b6
dc.identifier.urihttp://hdl.handle.net/20.500.12627/154920
dc.description.abstractTwo Turkish sibs with clinical features of Ehlers-Danlos syndrome type VI-B are presented. The hydroxylysine contents of dermis and gel electrophoresis of type I and type III collagen produced by fibroblasts were normal. Ultrastructural studies of skin collagen and elastic fibers showed discrete abnormalities. Other syndromes with similar clinical, biochemical and ultrastructural features are discussed.
dc.language.isoeng
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıp
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectGENETİK VE HAYAT
dc.titleCLINICAL, ULTRASTRUCTURAL AND BIOCHEMICAL-STUDIES IN 2 SIBS WITH EHLERS-DANLOS-SYNDROME TYPE-VI-B-LIKE FEATURES
dc.typeMakale
dc.relation.journalCLINICAL GENETICS
dc.contributor.department, ,
dc.identifier.volume46
dc.identifier.issue6
dc.identifier.startpage417
dc.identifier.endpage422
dc.contributor.firstauthorID115724


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