Document Detail

Adrenoleukodystrophy (Siemerling-creutzfeldt disease): Heterozygote with two clonal fibroblast populations.
MedLine Citation:
PMID:  837560     Owner:  NLM     Status:  MEDLINE    
On the fifth day after subcultivation,, fibroblasts of two unrelated patients with adrenoleukodystrophy (Siemerling-Creutzfeldt disease (SCD)) developed typical morphologic anomalies which could be seen by light microscopy. From skin biopsy material of an obligatorily heterozygous womam, both normal and morphologically defective colonies could be isolated. These findings suggest that the morphologic alterations are an expression of the defect in Siemerling-Creutzfeldt disease. Futhermore, they suggest that the SCD locus is subject to lyonization.
H H Ropers; J Zimmermann; T Wienker
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  11     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1977 Feb 
Date Detail:
Created Date:  1977-04-28     Completed Date:  1977-04-28     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  114-8     Citation Subset:  IM    
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MeSH Terms
Adrenal Cortex Diseases / genetics*
Adrenal Gland Diseases / genetics*
Cells, Cultured
Cholesterol / metabolism
Diffuse Cerebral Sclerosis of Schilder / genetics*,  metabolism
Fibroblasts / cytology,  metabolism
Lipid Metabolism, Inborn Errors
Time Factors
Reg. No./Substance:

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