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

DOI zum Zitieren dieses Dokuments:: 10.5283/epub.1976

Graw, Jochen ; Klopp, Norman ; Illig, Thomas ; Preising, Markus N. ; Lorenz, Birgit

PDF
(301kB) - Nur für Mitarbeiter des Archivs

Veröffentlichungsdatum dieses Volltextes: 05 Aug 2009 13:35

Alternative Links zum Volltext:Pubmed DOI Verlag

Details

Bibliographische Daten exportieren

Zusammenfassung

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 ...