Open AccessA novel heterozygous mutation in the hydroxymethylbilane synthase gene in a case with acute intermittent porphyria
Author(s) -
Ritwik Ghosh,
Moisés León-Ruiz,
Sona Singh Sardar,
Dinobandhu Naga,
Dipayan Roy,
Tapas Ghosh,
Souvik Dubey,
Julián BenitoLeón
Publication year - 2022
Publication title -
qatar medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.171
H-Index - 9
eISSN - 2227-0426
pISSN - 0253-8253
DOI - 10.5339/qmj.2022.46
Subject(s) - acute intermittent porphyria , medicine , porphyria , vomiting , gastroenterology , compound heterozygosity , posterior reversible encephalopathy syndrome , nausea , abdominal pain , gene mutation , mutation , gene , genetics , radiology , magnetic resonance imaging , biology