ISSN:
1432-1076
Schlagwort(e):
Hutchinson-Gilford-syndrome
;
Familial incidence
;
Autosomal-recessive disorder
;
Fibroblast cultures
;
Collagen types
;
Thymidine incorporation
;
Immunofluorescence
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
Abstract This report relates the case histories of two sisters who demonstrated the typical symptoms of progeria at birth. One of these children had died previous to this study. The familial occurrence underlines the thesis that progeria is an autosomal-recessive disorder. The examination of the cultured skin fibroblasts from the younger child showed a clear decrease in cell growth. On the other hand, the immunfluorescent examination of skin biopsies and cultured skin fibroblasts revealed no atypical distribution of collagen types.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/BF00477545
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