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Identification of a novel COL4A5 mutation in the proband initially diagnosed as IgAN from a Chinese family with X-linked Alport syndrome

Chinese FamilyMendelian DisorderAutoimmune DiseaseGenetic DisorderGeneticsGenetic EpidemiologyX-linked Alport SyndromePathologyMolecular GeneticsNovel Col4a5 MutationDisease Gene IdentificationGenomicsMedicine