COL4A3/COL4A4 Mutations and Features in Individuals with Autosomal Recessive Alport Syndrome

समान संसाधन

• Genotype-Phenotype Correlations for Pathogenic COL4A3–COL4A5 Variants in X-Linked, Autosomal Recessive, and Autosomal Dominant Alport Syndrome
  द्वारा: Judy Savige, और अन्य
  प्रकाशित: (2022-05-01)
• Should We Diagnose Autosomal Dominant Alport Syndrome When There Is a Pathogenic Heterozygous COL4A3 or COL4A4 Variant?
  द्वारा: Savige, Judy
  प्रकाशित: (2018)
• COL4A6 is dispensable for autosomal recessive Alport syndrome
  द्वारा: Murata, Tomohiro, और अन्य
  प्रकाशित: (2016)
• X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
  द्वारा: Judith Savige, और अन्य
  प्रकाशित: (2016-01-01)
• X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations
  द्वारा: Savige, Judith, और अन्य
  प्रकाशित: (2016)