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. 2010 Oct;25(10):2193-4.
doi: 10.1007/s00467-010-1539-5. Epub 2010 May 8.

Homozygous NPHP1 deletions in Egyptian children with nephronophthisis including an infantile onset patient

Neveen A Soliman, Friedhelm Hildebrandt, Susan J Allen, Edgar A Otto, Marwa M Nabhan, Ahmed M Badr

Homozygous NPHP1 deletions in Egyptian children with nephronophthisis including an infantile onset patient

Neveen A Soliman et al. Pediatr Nephrol. 2010 Oct.
No abstract available

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Figures

Figure 1
Figure 1
Screening for homozygous NPHP1 deletions. 20 patients (lane 1–20) from 17 independent families were analyzed using a multiplex PCR approach amplifying 5 different markers. Two control markers (a, e) and 3 NPHP1 exon markers [arrow “d” (exon 7, 236 bp), arrow “c” (exon 5, 339 bp), arrow “b” (exon 20, 436 bp)] were amplified in a single multiplex PCR. Fragments were separated on a 1.5% agarose gel for 3 hours at 120 V. Note that patients in lane 7, 8, 13, 14, 15, and 16 lack the bands for the respective NPHP1 exons indicating a homozygous NPHP1 deletion and confirming the diagnosis NPHP type 1. White bars indicate sibling cases. Lane M, 100 bp ladder DNA size Marker (New England Biolabs).
See this image and copyright information in PMC

References

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Supplementary concepts