Medical genetics: advances in brief: Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations

Antzeko izenburuak

• Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.
  nork: Peral, B., et al.
  Argitaratua: (1996)
• Medical genetics: advances in brief: Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene
  nork: Flinter, Frances
  Argitaratua: (1998)
• Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach
  nork: Flinter, Frances
  Argitaratua: (1997)
• Medical genetics: advances in brief: The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling
  nork: Flinter, Frances
  Argitaratua: (1995)
• Medical genetics: advances in brief: The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.
  nork: Flinter, Frances
  Argitaratua: (1997)