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

A Japanese family with mutation in the proteinase inhibitor 12 L47P gene: A case report.

Journal of the neurological sciences - 15 Jan 2018

Amano-Takeshige Haruka, Oyama Genko, Kanai Kazuaki, Miyagawa Toji, Mitsui Jun, Ugawa Yoshikazu, Tsuji Shoji, Hattori Nobutaka

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Epilepsies, Myoclonic
Share to Heredodegenerative Disorders, Nervous System

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Neuropeptides

Share to Pedigree

Share to Serpins

Source

Identifiers

PMID: 29249370
DOI: 10.1016/j.jns.2017.11.029

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

A Japanese family with mutation in the proteinase inhibitor 12 L47P gene: A case report.PMID 29249370Read ↗

The homozygous p.C1024R- ADAMTS13 gene mutation links to a late-onset phenotype of Upshaw-Schulman syndrome in Japan.Semantic proximity Read ↗

A rare mutation in the F12 gene in a patient with ACE inhibitor-induced angioedema.Semantic proximity Read ↗

Novel Case of Tripeptidyl Peptidase 2 Deficiency Associated with Mild Clinical Phenotype.Semantic proximity Read ↗

Novel p.M1T and recurrent p.G301S mutations in cathepsin C in a Japanese patient with Papillon-Lefèvre syndrome: implications for understanding the genotype/phenotype relationship.Semantic proximity Read ↗

LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome.Semantic proximity Read ↗

A novel mutation in the coagulation factor 12 gene in subjects with hereditary angioedema and normal C1-inhibitor.Semantic proximity Read ↗

A novel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly.Semantic proximity Read ↗

Chronic hereditary pancreatitis in a girl with a serine protease inhibitor kazal type I (SPINK-1) gene mutation and a coxsackie type B5 infection.Semantic proximity Read ↗

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