Genomic Organization of the Human PEX Gene Mutated in X-Linked Dominant Hypophosphatemic Rickets

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Figure 5.
Figure 5.

SSCP analysis of exon 17 after amplification of genomic DNA with intronic primers. The aberrant bands of patient 3752 (male) were found to have a G to C transition at nucleotide position 1735; patients 4057 (male), 5762(female), and 5587 (female) were found to have a G to A transition at nucleotide position 1735 giving rise to a missense mutation (G579R). The SSCP gels were run with 10% glycerine (see Methods).

This Article

  1. Genome Res. 7: 573-585

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