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Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients

Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene:... Two novel missense mutations, 1939G to A (R518Q) and 20I7A to G (Q544R) were identified in Japanese patients with adrenoleukodystrophy (ALD). They are located in exon 6, which encodes part of the putative adenosine triphosphate binding domain of ALD protein. The ALD protein carrying the R518Q mutation was undetectable in fibroblasts, by immunoblot and immunofluorescence analysis, white the Q544R mutation had no apparent effect on the stability and localization of the ALD protein, but is expected to affect its function. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients

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References (17)

Publisher
Wiley
Copyright
1997 Blackwell Munksgaard
ISSN
0009-9163
eISSN
1399-0004
DOI
10.1111/j.1399-0004.1997.tb02481.x
Publisher site
See Article on Publisher Site

Abstract

Two novel missense mutations, 1939G to A (R518Q) and 20I7A to G (Q544R) were identified in Japanese patients with adrenoleukodystrophy (ALD). They are located in exon 6, which encodes part of the putative adenosine triphosphate binding domain of ALD protein. The ALD protein carrying the R518Q mutation was undetectable in fibroblasts, by immunoblot and immunofluorescence analysis, white the Q544R mutation had no apparent effect on the stability and localization of the ALD protein, but is expected to affect its function.

Journal

Clinical GeneticsWiley

Published: May 1, 1997

Keywords: adenosine triphosphate binding cassette; adrenoleukodystrophy; ALD protein; missense mutation

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