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Fig. 2 | BMC Nephrology

Fig. 2

From: Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations

Fig. 2

Mutational analysis of LAMB2. The patient was compound heterozygous for two mutations. One is paternal allele of splice-donor site mutation (c.1225 + 1G > A). Another is maternally transmitted, four base-pair insertion leading to early termination (c.5077_5078insCCAG;p.Gly1693Alafs*8). F: father; M: mother; Pt: patient; WT: wild-type. The nucleotide numbering is according to the reference sequence GenBank accession NM_002292.3 with the first nucleotide of the ATG start codon on position +1

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