Graw, Jochen and Klopp, Norman and Illig, Thomas and Preising, Markus N. and Lorenz, Birgit (2006) Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 244 (8), pp. 912-919.
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Other URL: http://dx.doi.org/10.1007/s00417-005-0234-x
BACKGROUND: An isolated form of congenital cataract associated with macular hypoplasia and a generally hypopigmented fundus in infancy was observed in a German family. To test the hypothesis that a de-novo mutation had occurred in one of the parental germ lines, a functional candidate gene approach was applied. METHODS: The family was carefully examined by a senior paediatric ophthalmologist ...
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|Institutions:||Medicine > Lehrstuhl für Augenheilkunde|
|Keywords:||Cataract; P; CRYAA; Mutation; Human; Macular; Hypoplasia|
|Subjects:||600 Technology > 610 Medical sciences Medicine|
|Created at the University of Regensburg:||Unknown|
|Deposited On:||30 Aug 2007|
|Last Modified:||13 Mar 2014 10:12|