Züchner, Stephan

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. [electronic resource] - American journal of human genetics Feb 2011 - 201-6 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

1537-6605

10.1016/j.ajhg.2011.01.001 doi


Alkyl and Aryl Transferases--genetics
Animals
Dolichols--analogs & derivatives
Exons--genetics
Female
Genes, Dominant
Genetic Variation--genetics
Glycosylation
Humans
Male
Mutation--genetics
Pedigree
Phenotype
Polymerase Chain Reaction
Retinitis Pigmentosa--genetics
Rhodopsin--genetics
Sequence Analysis, DNA
Zebrafish--genetics
Zebrafish Proteins--antagonists & inhibitors