Download Slides - Rare Disease

More documents

Recommendations

Info

Non-consanguineous families can also be easilystudied• Unrelated parents: two children and one fetus affected with WWS• Only one gene with compound heterozygous mutations shared by allaffected children: B3GALNT2• Three additional families with alleles in the same gene
B3GALNT2 is another new dystroglycanopathy gene• B3GALNT2 is another glycosyltransferaseto add to the puzzle• Zebrafish MO knockdown analysis isconsistent with the findings from otherdystroglycanopathiesGTDC2
Page 1 and 2: Exome sequencing and functional val
Page 3 and 4: Dystroglycanopathies are extremely
Page 5 and 6: Homozygosity mapping provides linka
Page 7 and 8: Homozygosity mapping in a dystrogly
Page 9 and 10: CONFIGURE SU PLEGADOR FL SERIES EN
Page 11 and 12: gtdc2 loss of function severely aff
Page 13: Human GTDC2 mRNA rescues the morpha
Page 17 and 18: Chris WalshMuna Al SaffarBrenda Bar
Page 19 and 20: GTDC2 is expressed in the brain and
Page 21 and 22: gtdc2 mRNA is highly expressed in t
Page 23 and 24: gtdc2 loss of function disrupts org
Page 25 and 26: Post-doctoral positions availableMa
Page 27 and 28: How do you approach a heterogeneous

Download Slides - Rare Disease

You also want an ePaper? Increase the reach of your titles

Delete template?

Save as template?