Clinical evaluation of a hemochromatosis next-generation sequencing gene panel.

about

Is DNA testing for hemochromatosis diagnosis reliable?

P2860

Q53964925-7CA34B78-50FC-4AAD-9C75-B86367D800A8

P2860

Clinical evaluation of a hemochromatosis next-generation sequencing gene panel.

Item

http://www.wikidata.org/entity/Q38983679

description

2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh

2016年學術文章

@zh-hant

name

Clinical evaluation of a hemochromatosis next-generation sequencing gene panel.

@en

type

Item

label

Clinical evaluation of a hemochromatosis next-generation sequencing gene panel.

@en

prefLabel

Clinical evaluation of a hemochromatosis next-generation sequencing gene panel.

@en

P1476

Clinical evaluation of a hemochromatosis next-generation sequencing gene panel

@en

P2093

Alexander Levstik

http://www.w3.org/2001/XMLSchema#string

Bekim Sadikovic

http://www.w3.org/2001/XMLSchema#string

Bruce B Lanktree

http://www.w3.org/2001/XMLSchema#string

John S Waye

http://www.w3.org/2001/XMLSchema#string

Jovana Yudin

http://www.w3.org/2001/XMLSchema#string

Mark A Crowther

http://www.w3.org/2001/XMLSchema#string

Paul C Adams

http://www.w3.org/2001/XMLSchema#string

P2860

The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding

Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism

Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.

The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.

The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.

Hereditary hemochromatosis--a new look at an old disease.

Systemic iron homeostasis.

EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).

Examining the clinical use of hemochromatosis genetic testing.

Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases.

P304

228-234

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1111/EJH.12820

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Guillaume Paré

Matthew B Lanktree

P577

2016-11-11T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

27753142

http://www.w3.org/2001/XMLSchema#string

Clinical evaluation of a hemochromatosis next-generation sequencing gene panel.

about

P2860

P2860

Clinical evaluation of a hemochromatosis next-generation sequencing gene panel.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698