Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle...

Human Mutation 2015 / 09 Vol. 36; Iss. 9

Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF

Lazar, Csilla H., Kimchi, Adva, Namburi, Prasanthi, Mutsuddi, Mousumi, Zelinger, Lina, Beryozkin, Avigail, Ben-Simhon, Shiran, Obolensky, Alexey, Ben-Neriah, Ziva, Argov, Zohar, Pikarsky, Eli, Fellig,
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Volume:
36
Language:
english
Journal:
Human Mutation
DOI:
10.1002/humu.22822
Date:
September, 2015
File:
PDF, 580 KB
english, 2015
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