Demonstration of two novel LAMB2 mutations in the original Pierson syndrome family reported 42 years ago

Am J Med Genet A. 2005 Sep 15;138(1):73-4. doi: 10.1002/ajmg.a.30894.
No abstract available

Publication types

  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Aged
  • Codon, Nonsense
  • DNA Mutational Analysis
  • Eye Abnormalities*
  • Family Health
  • Female
  • Humans
  • Laminin / genetics*
  • Male
  • Mutation*
  • Nephrosis / pathology*
  • Pedigree
  • Syndrome

Substances

  • Codon, Nonsense
  • Laminin
  • laminin gamma 1

Associated data

  • OMIM/609049