A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.
about
Novel Findings into AIRE Genetics and Functioning: Clinical ImplicationsBiomarkers of mercury exposure in the AmazonCohen's h for detection of disease association with rare genetic variants.Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney diseaseIntron retention in mRNA: No longer nonsense: Known and putative roles of intron retention in normal and disease biology.A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1.The adenosine deaminase acting on RNA 1 p150 isoform is involved in the pathogenesis of dyschromatosis symmetrica hereditaria.
P2860
Q28075590-86351E69-FA33-419A-8B75-13B49A462394Q33609085-266165AE-525D-4652-B03B-8D006F8B556AQ34346408-B9DC5222-71CC-4F47-9A53-C861142FCC1EQ36343363-C9A487FD-09EF-4F1D-B09C-6E4C45E11E76Q38650057-6576B2DA-2755-40E1-B967-EFD054EFABC5Q50982786-DE3B6B0F-E74F-42E2-AF03-6122E52FC867Q51038015-D9A9A413-1390-475B-A169-80999FC5CAA0
P2860
A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.
description
2013 nî lūn-bûn
@nan
2013 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
A functional alternative splic ...... polyendocrine syndrome type 1.
@ast
A functional alternative splic ...... polyendocrine syndrome type 1.
@en
A functional alternative splic ...... polyendocrine syndrome type 1.
@nl
type
label
A functional alternative splic ...... polyendocrine syndrome type 1.
@ast
A functional alternative splic ...... polyendocrine syndrome type 1.
@en
A functional alternative splic ...... polyendocrine syndrome type 1.
@nl
prefLabel
A functional alternative splic ...... polyendocrine syndrome type 1.
@ast
A functional alternative splic ...... polyendocrine syndrome type 1.
@en
A functional alternative splic ...... polyendocrine syndrome type 1.
@nl
P2093
P2860
P1433
P1476
A functional alternative splic ...... polyendocrine syndrome type 1.
@en
P2093
Hongbin Liu
Honglian Wang
Junyu Zhang
Qinghe Xing
Xiaodong Zhang
Zhiyuan Liu
P2860
P304
P356
10.1371/JOURNAL.PONE.0053981
P407
P577
2013-01-08T00:00:00Z