Хайлтын үр дүнгүүд - Netta Pollack
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A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans -н Samer Khateb, Björn Kowalewski, Nicola Bedoni, Markus Daμμe, Netta Pollack, Ann Saada, Alexey Obolensky, Tamar Ben‐Yosef, Menachem Gross, Thomas Dierks, Eyal Banin, Carlo Rivolta, Dror Sharon
Хэвлэсэн 2018Artigo
Хайх хэрэгслүүд:
Холбогдох сэдвүүд
Ataxia
Atrophy
Audiology
Biology
Compound heterozygosity
Disease
Disease gene identification
Exome sequencing
Gene
Genetics
Hearing loss
Lysosomal storage disease
Medicine
Missense mutation
Mutant protein
Mutation
Neuroscience
Pathology
Phenotype
Retinal degeneration
Retinitis pigmentosa
Sensorineural hearing loss
Usher syndrome