Results 151 to 160 of about 2,525,333 (167)

Molecular MedicineReports

Molecular Medicine Reports, 2020
Yang Yang, Zhengang Yuan, Hua Peng
exaly  

Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria

Blood Cells, Molecules, and Diseases, 2009
Pavel Martásek, Vladimír Saudek, Nili Schoenfeld   +2 more
exaly  

Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria

Annals of Human Genetics, 2004
Manuel Sanchez-Solis, Encarna Guillén Navarro   +1 more
exaly  

Gene symbol : HMBS [in: Novel human pathological mutations]

2007
V. Besana, E. Di Pierro, V. Brancaleoni, S. Ausenda, M.D. Cappellini   +4 more
openaire   +1 more source

Novel human pathological mutations. Gene symbol: HMBS. Disease: Porphyria, acute intermittent.

Human genetics, 2009
E. Di Pierro, V. Brancaleoni, F. Stanzial, F. Benedicenti, C. Castellan, M.D. Cappellini   +5 more
openaire   +2 more sources

Ten novel mutations in the HMBS gene responsible for acute intermittent porphyria

2006
E. Di Pierro, V. Besana, V. Brancaleoni, S. Ausenda, D. Tavazzi, M.D. Cappellini   +5 more
openaire   +2 more sources

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Frontiers in Genetics, 2023
exaly  

Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent.

Human genetics, 2008
E. Di Pierro, V. Besana, V. Brancaleoni, M.R. Fasulo, C. Cesaretti, M.D. Cappellini   +5 more
openaire   +5 more sources

A novel HMBS gene mutation in acute intermittent porphyria: a case report of abdominal pain, seizures, and reversible neuroimaging findings

Frontiers in Genetics
Bingliang Zeng, Min Yuan, Dong Wentao
exaly  

A novel 19‐bp deletion of exon 15 in the HMBS gene causing acute intermittent porphyria associating with rhabdomyolysis during an acute attack

Clinical Genetics, 2008
A Yrjönen, E Pischik, S Mehtälä, R Kauppinen   +3 more
openaire   +1 more source