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...

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Bibliografski detalji
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: BMC 2013-01-01
Serija:Orphanet Journal of Rare Diseases
Teme:
Inherited retinal dystrophies
ADAMTS18
Exome
Homozygosity mapping
Medaka fish
Knobloch syndrome
Online pristup:http://www.ojrd.com/content/8/1/16
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