| Autor: |
McGrath, John A., Duijf, Pascal H.G., Doetsch, Volker, Irvine, Alan D., de Waal, Rob, Vanmolkot, Kaate R.J., Wessagowit, Vesarat, Kelly, Alexander, Atherton, David J., Griffiths, W. Andrew D., Orlow, Seth J., van Haeringen, Arie, Ausems, Margreet G.E.M., Yang, Annie, McKeon, Frank, Bamshad, Michael A., Brunner, Han G., Hamel, Ben C.J., van Bokhoven, Hans |
| Zdroj: |
Human Molecular Genetics; Feb2001, Vol. 10 Issue 3, p221, 1p |
| Abstrakt: |
Examines whether heterozygous mutations in the p63 gene are the major cause of Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome. Amino acid substitutions in the sterile alpha motif domain; Effect of missense mutations on protein-protein interactions; Genotype-phenotype correlation between AEC and ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome. |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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