Medizinische Universität Graz - Research portal
Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Khan, MA; Rupp, V; Khan, MA; Khan, MP; Ansar, M; Windpassinger, C.
Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene.
J Genet. 2014; 93(2):527-530
Doi: 10.1007/s12041-014-0394-8
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- Leading authors Med Uni Graz
- Rupp Verena
- Windpassinger Christian
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- Find related publications in this database (using NLM MeSH Indexing)
- Base Sequence -
- Codon, Nonsense -
- Consanguinity -
- DNA Mutational Analysis -
- Female -
- Genetic Association Studies -
- Genetic Predisposition to Disease -
- Guanylate Cyclase - genetics
- Humans -
- Leber Congenital Amaurosis - genetics
- Lod Score -
- Male -
- Male -
- Pedigree -
- Receptors, Cell Surface - genetics
- Sequence Deletion -
- Find related publications in this database (Keywords)
- Leber congenital amaurosis
- homozygosity mapping
- LCA1
- mutation screening
- GUCY2D gene