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Fig. 2 | Cilia

Fig. 2

From: Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia

Fig. 2

IFT43 mutations in SRPS. a–c Chromatograms illustrating homozygosity for the p.Met1Lys IFT43 mutation in proband R06-303A and heterozygosity in the parents. e–g Chromatograms illustrating homozygosity for the pTrp179Arg IFT43 mutation in proband R06-303A and heterozygosity in the parents. d The mutation in R06-303A affects the IFT43 start codon (highlighted in yellow). h The mutation in R03-121A alters a highly conserved tryptophan residue (highlighted in yellow)

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Cilia

ISSN: 2046-2530

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