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PKD1 mutation in cats
猫的多囊肾病1基因（PKD1）突变
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创建时间：
2024-01-31
相关数据集
Additional file 1: of Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy
Clinical, molecular, histopathological and ultrastructural findings for the patients. Table S1 Clinical and molecular findings in the DNM2 severe cases. Figure S1 Histopathological and ultrastructural
DataCite Commons2020-08-26 更新120
Table_2_Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.XLSX
Objective: Inherited myopathies comprise more than 200 different individually rare disease-subtypes, but when combined together they have a high prevalence of 1 in 6,000 individuals across the world.
NIAID Data Ecosystem70
Additional file 1: of ‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies
Full genetic data. (XLSX 470 kb)
NIAID Data Ecosystem40
Prevalence of autosomal dominant polycystic kidney disease in Persian and Persian-related cats in Brazil
Abstract Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disease in cats. However, scarce data on its prevalence are available in Brazil. Persian cats and Persian-relat
DataCite Commons2021-03-24 更新80
A Novel Mutation in CLCN1 Associated with Feline Myotonia Congenita
Myotonia congenita (MC) is a skeletal muscle channelopathy characterized by inability of the muscle to relax following voluntary contraction. Worldwide population prevalence in humans is 1∶100,000. St
NIAID Data Ecosystem50
