Výsledky vyhledávání - "S T Greene-Davis"

Detection of a R173W mutation in the porphobilinogen deaminase gene in the Nova Scotian 'foreign Protestant' population with acute intermittent porphyria: a founder effect

Autor: M. Moss, V E Sangalang, W E Schreiber, S T Greene-Davis, J P Welch, O E Mann, P E Neumann, Gale I Dempsey, G R Langley, Bassam A. Nassar

Publikováno v: Clinical biochemistry. 30(8)

Objectives: Acute intermittent porphyria (AIP) is caused by mutations in the porphobilinogen deaminase (PBGD) gene that disrupt the function of the enzyme. Many mutations that lead to decreased PBGD activity have been described. An Arg to Trp substit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2df4d35a238a86c1599317982be97212
https://pubmed.ncbi.nlm.nih.gov/9455613

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