The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy
Page 1 of 1
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy
Jon Moulton Tue Jan 29, 2013 12:30 pm
Peluso I, Conte I, Testa F, Dharmalingam G, Pizzo M, Collin RWJ, Meola N, Barbato S, Mutarelli M, Ziviello C, Barbarulo AM, Nigro V, Melone MAB, Simonelli F, Banfi S. The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy. Orphanet J Rare Dis. 2013, 8:16 doi:10.1186/1750-1172-8-16
Jon Moulton- Posts : 5721
Join date : 2010-03-12
Age : 61
Location : Philomath, Oregon, USA -
Similar topics» Knockdown of unc119c results in visual impairment and early-onset retinal dystrophy in zebrafish
» Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia
» Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy
» MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma
» Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness
» Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia
» Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy
» MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma
» Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness
Page 1 of 1
Permissions in this forum:
You cannot reply to topics in this forum|
|
|