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Fig. 1 | BMC Nephrology

Fig. 1

From: Two novel homozygous mutations in NPHP1 lead to late onset end-stage renal disease: a case report of an adult nephronophthisis in a Chinese intermarriage family

Fig. 1

Family tree of the proband. represents proband, represents male, represents female, represents intermarriage, represents fraternal twin, represents dead; represents patients with renal phenotype. Proband harbors homozygosis mutation of p. E697X,37 and p. F691 L in NPHP1 gene. Parents of the proband are first cousins and they harbor the two heterozygous mutations

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