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Molecular analysis of patients affected by homocystinuria due to cystathionine β‐synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11
Author(s) -
Sperandeo M. P.,
Panico M.,
Pepe A.,
Candito M.,
Franchis R.,
Kraus J. P.,
Andria G.,
Sebastio G.
Publication year - 1995
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 - 10.1007/bf00711769
Subject(s) - homocystinuria , cystathionine beta synthase , medicine , pediatrics , exon , genetics , biology , gene , amino acid , methionine