Results 161 to 167 of about 2,525,333 (167)

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

Human genetics, 2010
Dana, Ulbrichova, Rivka, Mamet, Gabriel, Munter, Pavel, Martasek, Nili, Schoenfeld   +4 more
openaire   +1 more source

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

Human genetics, 2011
Dana Ulbrichova, Douderova, Jiri, Zeman, Pavel, Martasek   +2 more
openaire   +1 more source

Neurodevelopmental disorder in a patient with HMBS and SCN3A variants—A possibly blended phenotype further delineating autosomal recessive HMBS related disease

American Journal of Medical Genetics, Part A
Magdalena Kłaniewska, Rafał Płoski
exaly  

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

2007
E. Di Pierro, V. Besana, V. Brancaleoni, S. Ausenda, P. Lonati, M.D. Cappellini   +5 more
openaire   +1 more source

HMBS Mutations in Chinese Patients with Acute Intermittent Porphyria

Annals of Human Genetics, 2008
exaly  

Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic HMBS Variants: A Case Report

JIMD Reports
Gayle Ross, Ingrid Winship, Timothy N Fazio   +2 more
exaly  

Seven novel genetic mutations within the 5 ' UTR and the housekeeping promoter of HMBS gene responsible for the non-erythroid form of acute intermittent porphyria (vol 49, pg 147, 2012)

2016
V. Brancaleoni, F. Granata, A. Colancecco, D. Tavazzi, M.D. Cappellini, E. Di Pierro   +5 more
openaire   +1 more source