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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AU - Chang, Chun Chao

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