-
deficiency (DeVivo syndrome)
Haploinsufficiency of A20
Haploinsufficiency of PRR12
Holoprosencephaly caused by
haploinsufficiency in the
Sonic Hedgehog gene...
-
Haploinsufficiency of A20 is a rare
disease caused by
mutations in the gene TNFAIP3. This gene is also
known as A20.
These are
variable even
within families...
- for health. This is
called haploinsufficiency. For instance, a
single copy of the Kmt5b gene
leads to
haploinsufficiency and
results in a
skeletal muscle...
- gene
expression and can
result in SON
haploinsufficiency. ZTTK
syndrome individuals with SON
haploinsufficiency display decreased mRNA
expression and...
- with
active SLE.
Germline haploinsufficiency of CTLA-4
leads to CTLA-4
deficiency or CHAI
disease (CTLA4
haploinsufficiency with
autoimmune infiltration)...
-
Pouncey J, Stevens, C., Mackay-Loder L,
Terespolsky D, and 31 others.
Haploinsufficiency of SOX5 at 12p12.1 is ****ociated with
developmental delays with prominent...
-
biology portal Allelotype Allozyme Evolution Genealogical DNA test
Haploinsufficiency Meiosis Mendelian error Mendelian inheritance Mitosis Penetrance Polymorphism...
- with Hailey–Hailey disease,
though the
cause is not
autoimmune but genetic. A
haploinsufficiency of the ATP2C1 gene
located on
chromosome 3,
which encodes the protein...
- DC (April 2012). "Down
syndrome as a
model of DNA
polymerase beta
haploinsufficiency and
accelerated aging".
Mechanisms of
Ageing and Development. 133...
- GTF2I, GTF2IRD1, and LIMK1 are
among the
genes typically deleted.
Haploinsufficiency for the ELN gene,
which codes for the
extracellular matrix protein...
