The <it>ADAMTS18 </it>gene is responsible for autosomal recessive early onset severe retinal dystrophy

<p>Abstract</p> <p>Background</p> <p>Inherited retinal dystrophies, including Retinitis Pigmentosa and Leber Congenital Amaurosis among others, are a group of genetically heterogeneous disorders that lead to variable degrees of visual deficits. They can be caused by mut...

詳細記述

保存先:
書誌詳細
主要な著者: Peluso Ivana, Conte Ivan, Testa Francesco, Dharmalingam Gopuraja, Pizzo Mariateresa, Collin Rob WJ, Meola Nicola, Barbato Sara, Mutarelli Margherita, Ziviello Carmela, Barbarulo Anna Maria, Nigro Vincenzo, Melone Mariarosa AB, Simonelli Francesca, Banfi Sandro
フォーマット: Artigo
言語:Inglês
出版事項: BMC 2013-01-01
シリーズ:Orphanet Journal of Rare Diseases
主題:
Inherited retinal dystrophies
ADAMTS18
Exome
Homozygosity mapping
Medaka fish
Knobloch syndrome
オンライン･アクセス:http://www.ojrd.com/content/8/1/16
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!

類似資料