Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments.

פריטים דומים

• Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.
  מאת: Antignac, C, et al.
  יצא לאור: (1994)
• Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.
  מאת: Knebelmann, B., et al.
  יצא לאור: (1996)
• Structural and functional consequences of the substitution of glycine 65 by arginine in the N-lobe of human transferrin
  מאת: Mason, Anne B., et al.
  יצא לאור: (2009)
• The First COL4A5 Exon 41A Glycine Substitution in a Family With Alport Syndrome
  מאת: Wang, Fang, et al.
  יצא לאור: (2020)
• A glycine substitution in the collagenous domain of Col4a3 in mice recapitulates late onset Alport syndrome
  מאת: Odiatis, Christoforos, et al.
  יצא לאור: (2020)