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Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P

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


Abstract

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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Item Type:Article
Date:August 2006
Institutions:Medicine > Lehrstuhl für Augenheilkunde
Identification Number:
ValueType
16453125PubMed ID
10.1007/s00417-005-0234-xDOI
Keywords:Cataract; P; CRYAA; Mutation; Human; Macular; Hypoplasia
Subjects:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Unknown
Created at the University of Regensburg:Unknown
Owner: Ute Lange
Deposited On:30 Aug 2007
Last Modified:13 Mar 2014 10:12
Item ID:1976
Owner Only: item control page

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