Mutation screening for tyrosinaemia type I.

SK Heath; Richard Gray; Patrick McKiernan; KM Au; Elizabeth Walker; Anne Green

Mutation screening for tyrosinaemia type I.

SK Heath, Richard Gray, Patrick McKiernan, KM Au, Elizabeth Walker, Anne Green

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19 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	523-4
Number of pages	2
Journal	Journal of Inherited Metabolic Disease
Volume	25
Issue number	6
Publication status	Published - 1 Oct 2002

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title = "Mutation screening for tyrosinaemia type I.",

abstract = "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.",

author = "SK Heath and Richard Gray and Patrick McKiernan and KM Au and Elizabeth Walker and Anne Green",

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AU - Heath, SK

AU - Gray, Richard

AU - McKiernan, Patrick

AU - Au, KM

AU - Walker, Elizabeth

AU - Green, Anne

PY - 2002/10/1

Y1 - 2002/10/1

N2 - 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.

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EP - 524

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 6

ER -

Mutation screening for tyrosinaemia type I.

Abstract

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