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Figure 3 | BMC Medical Genetics

Figure 3

From: Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux

Figure 3

Sequence analysis of the two novel mutations including c.2027 C > T (p.Thr907Met) identified in the gene NPR2 in the five families (A-E), and c.2986 + 2 T > G [IVS20 + 2 T > G] in family F. The upper panels (a, e) represent the nucleotide sequences in the unaffected individuals, the middle panels (b, f) in the heterozygous carriers and the lower panels (c, g) in the affected individuals. Panel d shows shared haplotypes of the gene NPR2 linked microsatellite markers in affected individuals in five families (A-E). Disease-interval is flanked by markers D9S1118 and D9S1874. Arrows in the panels indicate position of the nucleotide change.

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BMC Medical Genetics

ISSN: 1471-2350

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