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Mutation screening for tyrosinaemia type I
Author(s) -
Heath S. K.,
Gray R. G. F.,
McKiernan P.,
Au K. M.,
Walker E.,
Green A.
Publication year - 2002
Publication title -
journal of inherited metabolic disease
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1021275923668
Subject(s) - tyrosinemia , mutation , genetics , identification (biology) , gene mutation , human genetics , biology , gene , medicine , biochemistry , tyrosine , botany
This study reports the development of a mutation screening strategy for tyrosinaemia type I, and the identification of six novel mutations in the FAA gene.