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. Author manuscript; available in PMC: 2014 Jul 28.
Published in final edited form as: Adv Exp Med Biol. 2010;664:255–262. doi: 10.1007/978-1-4419-1399-9_29

Fig. 29.3.

Fig. 29.3

Allelic c.677T>A and c.700C>T mutations in families to probands diagnosed with arRP of Bothnia dystrophy. Detection of both mutations was done by PCR-RFLP. a. Pedigree charts of 5 families where filled symbols indicate affected individuals, while empty symbols indicate unaffected. b. c.700C>T mutation abolishes a MspI restriction site and results in one fragment of 213 bp. c. c.677T>A mutation abolishes a NspI restriction site and results in one fragment of 310 bp