Clin Genet. 1977 Feb;11(2):114-8.

Adrenoleukodystrophy (Siemerling-creutzfeldt disease): Heterozygote with two clonal fibroblast populations.

Abstract

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.

PMID:: 837560; [PubMed - indexed for MEDLINE]

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Adrenoleukodystrophy: studies of the phenotype, genetics and biochemistry. [Johns Hopkins Med J. 1980]
Adrenoleukodystrophy: studies of the phenotype, genetics and biochemistry.
Moser HW, Moser AB, Kawamura N, Migeon B, O'Neill BP, Fenselau C, Kishimoto Y. Johns Hopkins Med J. 1980 Dec; 147(6):217-24.
Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts. [Ann Neurol. 1980]
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Cited by 1 PubMed Central article

Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells. [Proc Natl Acad Sci U S A. 1981]
Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells.
Migeon BR, Moser HW, Moser AB, Axelman J, Sillence D, Norum RA. Proc Natl Acad Sci U S A. 1981 Aug; 78(8):5066-70.

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