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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMC 2013-01-01
Cyfres:Orphanet Journal of Rare Diseases
Pynciau:
Inherited retinal dystrophies
ADAMTS18
Exome
Homozygosity mapping
Medaka fish
Knobloch syndrome
Mynediad Ar-lein:http://www.ojrd.com/content/8/1/16
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