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Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene
Author(s) -
Linnebank M.,
Homberger A.,
Rapp B.,
Winter C.,
Marquardt T.,
Harms E.,
Koch H. G.
Publication year - 2000
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:1005690005439
Subject(s) - biology