Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutations.
about
Genetic pathways in disorders of epidermal differentiation.Addressing diagnostic challenges in primary immunodeficiencies: laboratory evaluation of Toll-like receptor- and NF-κB-mediated immune responses.The Gene Network Underlying Hypodontia.Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG / NEMO mutations.Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia.Correlating interleukin-12 stimulated interferon-γ production and the absence of ectodermal dysplasia and anhidrosis (EDA) in patients with mutations in NF-κB essential modulator (NEMO).Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes.Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia
P2860
Q38058973-35AB63F0-2E4F-4337-8527-684A520A1E0AQ38188634-6F057FD4-6ED9-4647-B9FA-DB7BDD55BB3CQ38440824-E2CE5C15-D39C-4984-9EA1-2B027AD93BF7Q40146597-1DD413E8-5C4B-4F52-BA4D-23B06AB100A0Q41921141-3209C4F9-6C88-486A-ABCB-727E33D5065CQ42221403-298D2A53-6457-4EAA-B983-8441AF1FA748Q51579330-C9B7CAB7-FB2E-4AE2-A407-8D4D19D43B41Q57450949-20928A8E-9983-4B74-974D-D1963DA82883
P2860
Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutations.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Hypohidrotic ectodermal dyspla ...... cident NEMO and EDA mutations.
@ast
Hypohidrotic ectodermal dyspla ...... cident NEMO and EDA mutations.
@en
type
label
Hypohidrotic ectodermal dyspla ...... cident NEMO and EDA mutations.
@ast
Hypohidrotic ectodermal dyspla ...... cident NEMO and EDA mutations.
@en
prefLabel
Hypohidrotic ectodermal dyspla ...... cident NEMO and EDA mutations.
@ast
Hypohidrotic ectodermal dyspla ...... cident NEMO and EDA mutations.
@en
P2093
P2860
P50
P356
P1476
Hypohidrotic ectodermal dyspla ...... ncident NEMO and EDA mutations
@en
P2093
Ashish Jain
E Richard Stiehm
Jon Burham
Joseph Church
Matthew A Deardorff
Maureen Petersen
Michael D Keller
P2860
P356
10.3389/FIMMU.2011.00061
P577
2011-11-08T00:00:00Z