Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX)

[...]the truncated protein in patient 1 lacks all of the domains and is apparently non-functional.

Saved in:
Bibliographic Details
Published in:Journal of medical genetics 2001-12, Vol.38 (12), p.874-876
Main Authors: Kobayashi, Ichiro, Shiari, Reza, Yamada, Masafumi, Kawamura, Nobuaki, Okano, Motohiko, Yara, Asao, Iguchi, Akihiro, Ishikawa, Nobuyoshi, Ariga, Tadashi, Sakiyama, Yukio, Ochs, Hans D, Kobayashi, Kunihiko
Format: Article
Language:English
Subjects:
Abnormalities
Asian Continental Ancestry Group - genetics
Base Sequence
Child
Child, Preschool
Cytokines
Diabetes Mellitus, Type 1 - genetics
DNA Mutational Analysis
DNA-Binding Proteins - genetics
Female
Forkhead Transcription Factors
Genes
Genetic disorders
Genetic Linkage - genetics
Humans
Infant
Infant, Newborn
Infant, Newborn, Diseases - genetics
Japan
Kidney Diseases - genetics
Letters to the Editor
Male
Mutation
Mutation - genetics
Patients
Polyendocrinopathies, Autoimmune - genetics
Syndrome
Thyroiditis, Autoimmune - genetics
X chromosome
X Chromosome - genetics
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:[...]the truncated protein in patient 1 lacks all of the domains and is apparently non-functional.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.38.12.874