ISSN:
1432-1203
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Summary We report two distinct variants affecting the βIV domain of erythrocyte spectrin, designated spectrin Saint-CChamond and spectrin Tlemcen. They were discovered in a French family and an Algerian individual, respectively. They appeared clinically and morphologically asymptomatic in the heterozygous state. In two-dimensional maps of spectrin partial digests, both mutants were manifested by cathodic shifts (with no change of the molecular weights) of the peptides that cover the N-terminal region of spectrin βIV domain. The relevance of the abnormal peptides to the βIV domain was established by quantitative analysis and by Western blotting using anti-βIV domain-specific antibodies. These two variants are thus far the most distal variants of spectrin to be defined on an unequivocal structural basis.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00291384
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