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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BMC 2013-01-01
Edice:Orphanet Journal of Rare Diseases
Témata:
Inherited retinal dystrophies
ADAMTS18
Exome
Homozygosity mapping
Medaka fish
Knobloch syndrome
On-line přístup:http://www.ojrd.com/content/8/1/16
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