MLL2
This page is about the
MLL2 gene/enzyme
and the mutations that are found with people diagnosed with the
Kabuki Syndrome
. (
Genetics Home Reference about MLL2
.) The
Press release at University of Washington
describing the discovery of mutations in MLL2 gene in relation with Kabuki Syndrome. The information on this page is based on:
Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA
.
Histone-lysine N-methyltransferase MLL2 - Homo sapiens (Human)
Standard Code
for decoding base pairs to amino acids.
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
.
Supplement
.
Figure and tables
.
MLL2 Mutation Spectrum in 45 Patients with Kabuki Syndrome
.
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Online diary
Mentioning of this page in my online diary:
August 16, 2010
: Paper
August 30, 2010
: Small errors
September 2, 2010
: Errors explained
October 27, 2010
: c.2272delG
January 18, 2011
: MLL2 mutation spectrum
October 3, 2011
: Small typing error
October 8, 2011
: Kabuki day: Error affirmed
May 23, 2012
: The KDM6A gene
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