Search Results - D.J. Sidjanin
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Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod–cone degeneration interval and identifies ancestral disease-transmitting chromosome by Orly Goldstein, Barbara Zangerl, Sue Pearce‐Kelling, D.J. Sidjanin, James Kijas, Jeanette S. Felix, Gregory M. Acland, Gustavo D. Aguirre
Published 2006Artigo -
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Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3 by D.J. Sidjanin, Jennifer K. Lowe, John L. McElwee, B.S. Milne, T. Phippen, David R. Sargan, Gustavo D. Aguirre, Gregory M. Acland, Elaine A. Ostrander
Published 2002Artigo -
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Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans by Ryan P. Liegel, Mark T. Handley, Adam Ronchetti, S.D.M. Brown, Lars Langemeyer, Andrea Linford, Bo Chang, Deborah Morris‐Rosendahl, Sarah M. Carpanini, Renata Posmyk, Verity Harthill, Eamonn Sheridan, Ghada M. H. Abdel‐Salam, Paulien A. Terhal, Francesca Faravelli, Patrizia Accorsi, Lucio Giordano, Lorenzo Pinelli, Britta Hartmann, Allison D. Ebert, Francis A. Barr, Irene A. Aligianis, D.J. Sidjanin
Published 2013Artigo
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Biology
Gene
Genetics
Allele
Biochemistry
Cell biology
GTPase
Locus (genetics)
Phenotype
Rab
Achromatopsia
Apoptosis
Autophagosome
Autophagy
Candidate gene
Cataracts
Cytosol
Endoplasmic reticulum
Enzyme
Exon
G protein
GTPase-activating protein
Genetic linkage
Genotype
Guanine nucleotide exchange factor
Haploinsufficiency
Haplotype
Infertility
Linkage disequilibrium
Loss function