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

Life Sciences, Genetics, Molecular Genetics +12

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

Life Sciences, Genetics, Molecular Genetics +7

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 · 50 citations

Medicine, Genetics, Molecular Genetics +13

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

Medicine, Genetics, Ophthalmology +14

Spectrum of COL4A5 mutations in Finnish Alport syndrome patients

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

Life Sciences, Genetics, Molecular Genetics +14