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Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: Report on three novel mutations E176K, W409X and 1223 + 37 de199
Author(s) -
Kožich V.,
Janošík M.,
Sokolová J.,
Oliveriusová J.,
Orendáč M.,
Kraus J. P.,
Elleder D.
Publication year - 1997
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005325911665
Subject(s) - czech , homocystinuria , slovak , medicine , philosophy , genetics , biology , linguistics , amino acid , methionine