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Early cirrhosis in a patient with type I citrullinaemia (CTLN1)
Author(s) -
Güçer Ş.,
Aşan E.,
Atilla P.,
Tokatl A.,
Çağlar M.
Publication year - 2004
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/b:boli.0000037401.63596.de
Subject(s) - cirrhosis , intron , rna splicing , mutation , genetics , medicine , gene , biology , pathology , rna
Summary: A 17‐month‐old girl with type I classical citrullinaemia (CTLN1) presenting with early cirrhosis and unusual ultrastructural features of the liver is reported. The patient is homozygous for a splicing mutation in intron 15 of the argininosuccinate synthase gene.