HIGHLIGHTS
- who: Jose Maria Garcia-Aznar Nava from the Healthincode, A Coruña, Spain have published the research: Type of the Paper (Article, in the Journal: (JOURNAL)
- what: The authors provide the relevant data on disease prognosis in autosomal dominant forms of Alport syndrome in a large cohort of 317 cases including two novel deleterious missense mutations in COL4A3, described in this report. For this study, the authors designed a specific form to collect the demographic data of index cases and family members, genotype results from genetic tests, and phenotypic features including analytical abnormalities, state of . . .
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