Donskoy cats as a new model of oculocutaneous albinism with the identification of a splice‐site variant in Hermansky – Pudlak Syndrome 5 gene
Author:
Affiliation:
1. Univ Lyon VetAgro Sup Marcy l'Etoile France
2. Univ RennesCNRS, IGDR‐UMR 6290 Rennes France
3. Antagene La Tour de Salvagny France
4. Univ Lyon CNRS UMR5310 INSERM U1217 Université Claude Bernard Lyon IInstitut NeuroMyoGène Lyon France
Funder
VetAgro Sup
Fondation pour la Recherche sur la Biodiversite
Publisher
Wiley
Subject
Dermatology,General Biochemistry, Genetics and Molecular Biology,Oncology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/pcmr.12906
Reference38 articles.
1. Allelic heterogeneity of albinism in the domestic cat
2. Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype
3. The road to lysosome‐related organelles: Insights from Hermansky‐Pudlak syndrome and other rare diseases
4. Predicting the Functional Effect of Amino Acid Substitutions and Indels
5. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
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