MOLECULAR GENETICS OF ALPORT SYNDROME

Pubblicazioni Scientifiche

• AMERICAN JOURNAL OF HUMAN GENETICS

  X-linked Alport syndrome: An SSCP-based mutation survey over all 51 exons of the COL4A5 gene

• AMERICAN JOURNAL OF MEDICAL GENETICS

  MAJOR COL4A5 GENE REARRANGEMENTS IN PATIENTS WITH JUVENILE TYPE ALPORT SYNDROME

• CLINICAL GENETICS

  A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome

• HUMAN MUTATION

  DELETION SPANNING THE 5' ENDS OF BOTH THE COL4A5 AND COL4A6 GENES IN A PATIENT WITH ALPORTS-SYNDROME AND LEIOMYOMATOSIS

• HUMAN MUTATION

  Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome