Fiona Francis; Tim M. Strom; Steffen Hennig; Annett Böddrich; Bettina Lorenz; Oliver Brandau; Klaus L. Mohnike; Michele Cagnoli; Christina Steffens; Sven Klages; Katja Borzym; Thomas Pohl; Claudine Oudet; Michael J. Econs; Peter S.N. Rowe; Richard Reinhardt; Thomas Meitinger; Hans Lehrach

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

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Figure 3.

Segregation of the stop mutation R747X in family 316. Amplification products of exon 22 were analyzed by SSCP. Individuals in the pedigree from left to right are 4266 (male), 4264 (female), 4265 (female), 4063 (female), 4064 (male), and 4065 (female).