Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5

Figure 3

c.2270G>A, p.Trp757 mutation in the LRP5 gene. (a) cDNA reference sequence for LRP5. (b) cDNA of the proband revealed a G- - - -A substitution at nucleotide 2270, resulting in a trp757-to-stop codon.