Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.
作者信息
Aguirre-Lamban Jana, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Trujillo-Tiebas M J, Villaverde C, Ayuso C
机构信息
Fundación Jiménez Díaz, Department Genética, Madrid, Spain.
出版信息
Hum Genet. 2007 Jun;121(5):648.
PMID:17879441
Abstract
摘要
相似文献
1
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.
Hum Genet. 2007 Jun;121(5):648.
2
Human gene mutations. Gene symbol: ABCA4. Disease: Stargardt disease.
Hum Genet. 2007 Sep;122(2):211.
3
Gene symbol: ABCA4. Disease: Stargardt disease 1.
Hum Genet. 2006 Jul;119(6):671.
4
Gene symbol: ABCA4. Disease: Stargardt disease.
Hum Genet. 2008 Jun;123(5):555.
5
[From gene to disease: from the ABCA4 gene to Stargardt disease, cone-rod dystrophy and retinitis pigmentosa].
Ned Tijdschr Geneeskd. 2002 Aug 24;146(34):1581-4.
6
Gene symbol: ABCA4. Disease: Macular dystrophy.
Hum Genet. 2008 Jun;123(5):544.
7
Gene symbol: ABCA4. Disease: Macular dystrophy.
Hum Genet. 2008 Jun;123(5):547.
8
ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa.
Invest Ophthalmol Vis Sci. 2002 Sep;43(9):2819-24.
9
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.
Invest Ophthalmol Vis Sci. 2001 Sep;42(10):2229-36.
10
Gene symbol: ABCA4. Disease: Macular dystrophy.
Hum Genet. 2008 Jun;123(5):544.
Zotero 插件