Exon 6 - PowerPoint PPT Presentation

GALT and PAH deletion analysis in galactosaemia and PKU patients

GALT and PAH deletion analysis in galactosaemia and PKU patients. Sarah Burton-Jones Bristol Genetics Laboratory CMGS Spring Meeting Liverpool 2008. Galactosaemia and Phenylketonuria. ‘Inborn errors of metabolism’ Autosomal recessive Highly variable incidence across Europe

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530 views • 21 slides

Clinical Cases (Barcelona)

Clinical Cases (Barcelona). Two brothers (5 and 7 years old) of Pakistani ethnicity were referred to the Endocrinology Unit because of short stature. Relevant Family &amp; Personal History. Parental consanguinity Midparental height 174 cm One normal statured older sister

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329 views • 17 slides

13-4

400 bp. 300 bp. 13-1. 13-2. 13-3. 13-4. 13-5. 13-6. 13-7. 13-8. 13-9. 13-10. 13-11. Figure (E)F-1. Agarose gel electrophoresis of GLRA1 exon 6 amplimers. This exon is amplified in all except affected individuals in Family 1. Expected amplimer size for exon 6 is 315 bp.

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106 views • 1 slides

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