-
Sarfarazi M (July 1996). "Genomic
structure of HOXD13 gene: a nine
polyalanine duplication causes synpolydactyly in two
unrelated families".
Human Molecular...
- by an
increase in
polyalanine repeats at the
start of the HOXD13 gene. This
likely disrupts proper protein function, as
polyalanine consists of alanine...
-
polyglutamine and
polyalanine expansion mutations, as
frame shifting of the
original SCA3 gene
product encoding CAG/polyglutamines to GCA/
polyalanines. Ribosomal...
-
protein so
different than all
other genes with
disease causing expanded polyalanine tracts, is that it is not a
transcription factor. Instead, PABPN1 is...
- mutagenesis. In addition,
classical X-ray
crystallography often employs the
polyalanine-backbone
model to
determine three-dimensional
structures of proteins...
- gene expression, morphogenesis, and differentiation.
Expansion of a
polyalanine tract in the
encoded protein can
cause hand-foot-genital syndrome, also...
- also
applies to a
wider range of
Carnivora species.
Length changes in
polyalanine tracts within the HOXA13 gene are
linked to hand-foot-genital syndrome...
-
known to be ****ociated with HFGS.
Approximately 60% of
mutations are
polyalanine expansions.
Molecular genetic testing is
clinically available.[citation...
- 13(5) "****ociation
between schizophrenia with
ocular misalignment and
polyalanine length variation in PMX2B";
Human Molecular Genetics; p551; (http://hmg...
- (OMIM): 308350 Kato M,
Saitoh S,
Kamei A, et al. (August 2007). "A
Longer Polyalanine Expansion Mutation in the ARX Gene
Causes Early Infantile Epileptic Encephalopathy...
