Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

Mixed lineage leukemia: roles in gene expression, hormone signaling and mRNA processing

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Mixed lineage leukemia: histone H3 lysine 4 methyltransferases from yeast to human

(2010) Shivani Malik et al.   FEBS Journal

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

(2010) Barbara Tappino et al.   HUMAN MUTATION

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

The structure of the FYR domain of transforming growth factor beta regulator 1

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Histone H3 lysine 4 (H3K4) methylation in development and differentiation

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