Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome.
作者信息
Flintoff K J, Boute-Benejean Odile
机构信息
DNA Laboratory, Clinical Genetics Department, St. James's University Hospital, Leeds, UK.
出版信息
Hum Genet. 2007 Jun;121(5):645.
PMID:17879432
Abstract
摘要
相似文献
1
Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome.
Hum Genet. 2007 Jun;121(5):645.
2
Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome.
Hum Genet. 2007 Jun;121(5):647.
3
Novel human pathological mutations. Gene symbol: TPI1. Disease: triosephosphate isomerase deficiency.
Hum Genet. 2007 Jun;121(5):650.
4
Human gene mutations. Gene symbol: CYP19. Disease: Aromatase deficiency.
Hum Genet. 2004 Jan;114(2):224.
5
Regulation of Alström syndrome gene expression during adipogenesis and its relationship with fat cell insulin sensitivity.
Int J Mol Med. 2008 Jun;21(6):731-6.
6
Gene symbol: ALMS1.
Hum Genet. 2007 Apr;121(2):297.
7
Alström syndrome.
Eur J Hum Genet. 2007 Dec;15(12):1193-202. doi: 10.1038/sj.ejhg.5201933. Epub 2007 Oct 17.
8
Gene symbol: ALMS1.
Hum Genet. 2007 Apr;121(2):287. doi: 10.1007/s00439-006-0321-z.
9
Novel human pathological mutations. Gene symbol: NPHS2. Disease: steroid-resistant nephrotic syndrome.
Hum Genet. 2007 Dec;122(5):549.
10
Novel human pathological mutations. Gene symbol: NPHS1. Disease: congenital nephrotic syndrome, Finnish type.
Hum Genet. 2009 Apr;125(3):334.
引用本文的文献
1
A novel variant in ALMS1 in a patient with Alström syndrome and prenatal diagnosis for the fetus in the family: A case report and literature review.
Mol Med Rep. 2020 Oct;22(4):3271-3276. doi: 10.3892/mmr.2020.11398. Epub 2020 Jul 31.
2
Alström Syndrome: Mutation Spectrum of ALMS1.
Hum Mutat. 2015 Jul;36(7):660-8. doi: 10.1002/humu.22796. Epub 2015 May 18.
Zotero 插件