Concepedia

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes

Sandy Léger, X. Balguérie, Alice Goldenberg, Valérie Drouin‐Garraud, Annick Cabot, Isabelle Amstutz-Montadert, Paul Young, P. Joly, Virginie Bodereau, Muriel Holder‐Espinasse,

European Journal of Human Genetics · 2012 · 46 citations · 22 references

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References

22

SWISS‐MODEL and the Swiss‐Pdb Viewer: An environment for comparative protein modeling

Nicolas Guex, Manuel C. Peitsch · Electrophoresis · 1997 · 11.3K citations

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Human Splicing Finder: an online bioinformatics tool to predict splicing signals

François-Olivier Desmet, Dalil Hamroun, Marine Lalande et al. · Nucleic Acids Research · 2009 · 2.5K citations · Full text

, , +14

Genetic determinants of hair, eye and skin pigmentation in Europeans

Patrick Sulem, Daníel F. Guðbjartsson, Simon Stacey et al. · Nature Genetics · 2007 · 760 citations

, , +13

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene

Mayada Tassabehji, Valeria E. Newton, Andrew Read · Nature Genetics · 1994 · 669 citations

, , +10

The melanocortin-1-receptor gene is the major freckle gene

Maarten T. Bastiaens · Human Molecular Genetics · 2001 · 232 citations

, , +16