Geographical and ethnic distribution of mutations of the fumarylacetoacetate hydrolase gene in hereditary tyrosinemia type 1

JIMD Reports

Volumn 19, Issue , 2015, Pages 43-58

  Angileri, Francesca ^a   Bergeron, Anne ^a   Morrow, Geneviève ^a   Lettre, Francine ^a   Gray, George ^b   Hutchin, Tim ^b   Ball, Sarah ^b   Tanguay, Robert M ^a  

^a UNIVERSITÉ LAVAL   (Canada)

^b BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Autosomal recessive disease; Nonsense mutation; Splice defect; Splice mutation; Tubular dysfunction

Indexed keywords

EID: 84960947944     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2014_363     Document Type: Chapter

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