- A
pseudodeficiency allele or
pseudodeficiency mutation is a
mutation that
alters the
protein product or
changes the gene's expression, but
without causing...
- Tønnesen T, Von
Figura K (1991). "Mutations in the
arylsulfatase A
pseudodeficiency allele causing metachromatic leukodystrophy". Am. J. Hum. Genet. 49...
- the ARSA
enzyme activity alone is not
sufficient for diagnosis; ARSA
pseudodeficiency,
which is
characterized by
enzyme activity that is 5~20% of normal...
- ****ay was
particularly effective among Ashke**** Jews
because fewer pseudodeficiency alleles are
found in this po****tion, as
compared with the general...
- Lim-Steele JS,
Dowling CE,
Akerman BR, et al. (October 1992). "A
pseudodeficiency allele common in non-Jewish Tay-Sachs carriers:
implications for carrier...
-
which many
mutant polymorphic alleles have been discovered,
including pseudodeficiency alleles, very few GM2A
mutations have been reported. When AB variant...
-
Brodtkorb E,
Kvittingen EA (December 1994). "Identification of a
frequent pseudodeficiency mutation in the
fumarylacetoacetase gene, with
implications for diagnosis...
- beta-mannosidase
activity ****ociated with
severe leukoencephalopathy: a
possible pseudodeficiency variant". BMC Med. Genet. 10: 84. doi:10.1186/1471-2350-10-84. PMC 2745377...
