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Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin
Authors: Hennies, H. C.; Kornak, U.; Zhang, H. K.; Egerer, J.; Zhang, X.; Seifert, W.; Kuhnisch, J.; Budde, B.; Natebus, M.; Brancati, F.; Wilcox, W. R.; Muller, D.; Kaplan, P. B.; Rajab, A.; Zampino, G.; Fodale, V.; Dallapiccola, B.; Newman, W.; Metcalfe, K.; Clayton-Smith, J.; Tassabehji, M.; Steinmann, B.; Barr, F. A.; Nurnberg, P.; Wieacker, P.; Mundlos, S.
Date of Publication (YYYY-MM-DD): 2008-12
Title of Journal: Nature Genetics
Volume: 40
Issue / Number: 12
Start Page: 1410
End Page: 1412
Document Type: Article
ID: 397157.0


Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2.
Authors: Tassabehji, M.; Read, A.; Newton, V. E.; Patton, M.; Gruss, P.; Harris, R.; Strachan, T.
Date of Publication (YYYY-MM-DD): 1993-01
Title of Journal: Nature Genetics
Volume: 3
Issue / Number: 1
Start Page: 26
End Page: 30
Document Type: Article
ID: 277173.0


WAARDENBURG SYNDROME PATIENTS HAVE MUTATIONS IN THE HUMAN HOMOLOG OF THE PAX-3 PAIRED BOX GENE
Authors: Tassabehji, M.; Read, A.; Newton, V. E.; Harris, R.; Balling, R.; Gruss, P.; Strachan, T.
Date of Publication (YYYY-MM-DD): 1992-02-13
Title of Journal: Nature
Volume: 355
Issue / Number: 6361
Start Page: 635
End Page: 636
Document Type: Article
ID: 281332.0