R173W mutation of hydroxymethylbilane synthetase is associated with acute intermittent porphyria complicated with rhabdomyolysis: The first report

Mei Chuan Chen, Chen Jung Chang, Yung Hsiu Lu, Dau Ming Niu, Horng Yuan Lou, Chun Chao Chang

Research output: Contribution to journalArticle

1 Citation (Scopus)
Original languageEnglish
Pages (from-to)256-257
Number of pages2
JournalJournal of Clinical Gastroenterology
Volume49
Issue number3
DOIs
Publication statusPublished - Mar 13 2015

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DNA Mutational Analysis
Hydroxymethylbilane Synthase
Acute Intermittent Porphyria
Rhabdomyolysis
Pedigree
Genetic Predisposition to Disease
Heterozygote
Exons
Phenotype
Mutation

ASJC Scopus subject areas

  • Gastroenterology
  • Medicine(all)

Cite this

R173W mutation of hydroxymethylbilane synthetase is associated with acute intermittent porphyria complicated with rhabdomyolysis : The first report. / Chen, Mei Chuan; Chang, Chen Jung; Lu, Yung Hsiu; Niu, Dau Ming; Lou, Horng Yuan; Chang, Chun Chao.

In: Journal of Clinical Gastroenterology, Vol. 49, No. 3, 13.03.2015, p. 256-257.

Research output: Contribution to journalArticle

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