Niina Heiskari

High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.

Paula Martin, Niina Heiskari, Jing Zhou et al. · Journal of the American Society of Nephrology · 1998 · 139 citations

Engineering, Genetics, Genetic Epidemiology +19

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

Alessandra Renieri, Mirella Bruttini, Lucia Galli et al. · PubMed · 1996 · 110 citations · Full text

Identification of 17 mutations in ten exons in the COL4A5 collagen gene, but no mutations found in four exons in COL4A6

Niina Heiskari, Ximu Zhang, Jielin Zhou et al. · Journal of the American Society of Nephrology · 1996 · 49 citations

Ten Exon Regions, Genetics, Renal Pathology +23

Ocular findings in 34 patients with Alport syndrome, correlation of the findings to mutations in COL4A5 gene

Heli Pajari, Kirsi Setälä, Niina Heiskari et al. · Acta Ophthalmologica Scandinavica · 1999 · 21 citations · Full text

Spectrum of COL4A5 mutations in Finnish Alport syndrome patients

Paula Martín, Niina Heiskari, Heli Pajari et al. · Human Mutation · 2000 · 13 citations

Exons 41A, Col4a5 Mutations, Urology +14