Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

SLC40A1 and CP single nucleotide polymorphisms in porphyria cutanea tarda patients of mixed ancestry.

Annals of human genetics - 1 Sept 2018

Succi Isabella Brasil, Pôrto Luís Cristóvão, Silva Dayse, Nascimento Adriana, Neto Ronald Costa, Fonseca João Carlos

Abstract excerpt

Porphyria cutanea tarda (PCT) is a multifactorial disease; clinical expression depends on both genetic and acquired factors. Few studies have examined the connection between PCT and the regulation of iron metabolism genes other than the HFE gene. We selected five polymorphisms in the CYBRD1, CP, SLC40A1, and HAMP genes to determine whether these polymorphisms can act as genetic modulators in patients with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Case-Control Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cation Transport Proteins

Share to Ceruloplasmin

Share to Ferroportin

Share to Porphyria Cutanea Tarda

Share to Racial Groups

Share to Young Adult

Source

Identifiers

PMID: 29774528
DOI: 10.1111/ahg.12253

Genes

CYBRD1
HAMP
HFE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SLC40A1 and CP single nucleotide polymorphisms in porphyria cutanea tarda patients of mixed ancestry.PMID 29774528Read ↗

Iron homeostasis in porphyria cutanea tarda: mutation analysis of promoter regions of CP, CYBRD1, HAMP and SLC40A1.Semantic proximity Read ↗

Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation.Semantic proximity Read ↗

Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies.Semantic proximity Read ↗

Comprehensive cytochrome P450 CYP1A2 gene analysis in French caucasian patients with familial and sporadic porphyria cutanea tarda.Semantic proximity Read ↗

Porphyria cutanea tarda, C282Y, H63D and S65C HFE gene mutations and hepatitis C infection: a study from southern France.Semantic proximity Read ↗

Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT).Semantic proximity Read ↗

The prevalence of HFE C282Y gene mutation is increased in Spanish patients with porphyria cutanea tarda without hepatitis C virus infection.Semantic proximity Read ↗

Clinical, Biochemical and Molecular Characteristics of the Main Types of Porphyria.Semantic proximity Read ↗

Hemochromatosis gene sequence deviations in German patients with porphyria cutanea tarda.Semantic proximity Read ↗

High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda.Semantic proximity Read ↗

Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.Semantic proximity Read ↗

Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.