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

[Two cases of hepatolenticular degeneration caused by combined R778L and P992L mutation].

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology - 20 Dec 2021

Cheng Q Q, Yang L X, Xu Q L, Yan X H, Wu X P, Ge S F

Abstract excerpt

肝豆状核变性发病隐匿，临床表现多样，易被漏诊、误诊。现报道2例未成年女性肝豆状核变性患者，并对患者及其家系行ATP7B基因外显子测序，进行相关文献复习，以期进一步了解该罕见病的基因特点。.

Read the complete abstract on PubMed

Topics

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

Share to Copper-Transporting ATPases
Share to DNA Mutational Analysis
Share to Hepatolenticular Degeneration

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 35045639
DOI: 10.3760/cma.j.cn501113-20191112-00416
PMCID: PMC12814245

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Two cases of hepatolenticular degeneration caused by combined R778L and P992L mutation].PMID 35045639Read ↗

[Mutational analysis of ATP7B gene of hepatolenticular degeneration in Xinjiang region].Semantic proximity Read ↗

[Factors influencing the clinical phenotype of hepatolenticular degeneration].Semantic proximity Read ↗

[Progress in molecular mechanism of hepatolenticular degeneration induced by ATP7B gene mutation].Semantic proximity Read ↗

"Acquired" hepatocerebral degeneration in a patient heterozygote carrier for a novel mutation in ATP7B gene.Semantic proximity Read ↗

[Mitochondrial liver disease caused by TRMU gene mutation].Semantic proximity Read ↗

Acute Liver Failure for Liver Transplantation Due to Hepatolenticular Degeneration:a Case Report and Literature ReviewSemantic proximity Read ↗

[A case of delayed-type cholesteryl ester storage disease derived from LIPA gene mutation].Semantic proximity Read ↗

[Management of hepatolenticular degeneration during pregnancy].Semantic proximity Read ↗

[Clinicopathological features of Wilson disease: report of 29 cases].Semantic proximity Read ↗

[Clinical features, diagnosis, and treatment strategies of progressive familial intrahepatic cholestasis].Semantic proximity Read ↗

[Hereditary spherocytosis with intrahepatic cholestasis caused by SPTB gene mutation in a case].Semantic proximity Read ↗

[A case report of end-stage dilated cardiomyopathy caused by neutral lipid storage disease].Semantic proximity Read ↗

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