about
Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis.X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria.Advances in understanding the pathogenesis of congenital erythropoietic porphyria.Laboratory diagnosis of thalassemia.Molecular Basis of β-Thalassemia Intermedia in Erbil Province of Iraqi Kurdistan.A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria.A puzzling mutation in congenital erythropoietic porphyria and an association with β-thalassaemia traitGene symbol: HMBS. Disease: porphyria, acute intermittentA large deletion on chromosome 11 in acute intermittent porphyriaA 10376 bp deletion of FECH gene responsible for erythropoietic protoporphyriaMultiplex ligation-dependent probe amplification: a novel approach for genetic diagnosis of PorphyriaThe assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5' untranslated exon 1Corrigendum to "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" [Blood Cells Mol. Dis. 49 (2012) 147-151]Digital PCR (dPCR) analysis reveals that the homozygous c.315-48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP)Common fetal hemoglobin variants in Lebanese patients bearing the codon 29 beta gene mutation associated with different thalassemia phenotypesMolecular characterization, by digital PCR analysis of four HMBS gene mutations affecting the ubiquitous isoform of Porphobilinogen Deaminase (PBGD) in patients with Acute Intermittent Porphyria (AIP)Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism
P50
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P50
description
researcher ORCID ID = 0000-0003-1521-3319
@en
wetenschapper
@nl
name
Valentina Brancaleoni
@ast
Valentina Brancaleoni
@en
Valentina Brancaleoni
@es
Valentina Brancaleoni
@nl
type
label
Valentina Brancaleoni
@ast
Valentina Brancaleoni
@en
Valentina Brancaleoni
@es
Valentina Brancaleoni
@nl
prefLabel
Valentina Brancaleoni
@ast
Valentina Brancaleoni
@en
Valentina Brancaleoni
@es
Valentina Brancaleoni
@nl
P1153
23488024200
P31
P496
0000-0003-1521-3319