Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature

Erstveröffentlichung

2015

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Wissenschaftlicher Artikel

Authors

Hedergott, A.

Volk, A. E.

Herkenrath, P.

Thiele, H.

Fricke, J.

et al.

Institutions

UKU. Institut für Humangenetik

Published in

Graefes Archive for Clinical and Experimental Ophthalmology ; 253 (2015), 12. - S. 2239-2246. - ISSN 0721-832X. - eISSN 1435-702X

Link to publication

https://dx.doi.org/10.1007/s00417-015-3174-0

Keywords

NMNAT1; LCA; Macular atrophy; Whole exome sequencing; MUTATIONS; PHENOTYPE; WLD(S)

Dewey Decimal Group

DDC 610 / Medicine & health

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