- a
disease caused by
mutations in
DHDDS should be
considered a
congenital disorder of
glycosylation (and
named DHDDS-CDG
according to the
novel nomenclature...
- Peričak-Vance MA (February 2011). "Whole-exome
sequencing links a
variant in
DHDDS to
retinitis pigmentosa".
American Journal of
Human Genetics. 88 (2): 201–6...
-
neurodegenerative disease. The
disease is an
extremely rare
genetic mutation of the
DHDDS gene,
which has only been
diagnosed in 6
people total worldwide. "Anatomy...
- recessive, RP19) RPE65 (autosomal recessive, RP20) For all
other genes (e.g.
DHDDS),
molecular genetic testing is
available on a
research basis only. RP can...
- SNRNP200, PRCD, NR2E3, MERTK, USH2A, PROM1, KLHL7, CNGB1, TTC8, ARL6,
DHDDS, BEST1, LRAT, SPARA7, CRX
dominant or
recessive 1:4,000 Rett
syndrome MECP2...
- HGNC:2858 Q16854 4226 DHCR7 HGNC:2860 Q9UBM7 4227 DHCR24 HGNC:2859 Q15392 4228
DHDDS HGNC:20603 Q86SQ9 4229 DHDH HGNC:17887 Q9UQ10 4230 DHFR HGNC:2861 P00374...
-
Lipid Research. 2021; 62.
Rapid retinal degeneration caused by rod-specific
Dhdds ablation without concomitant inhibition of
protein N-glycosylation. iScience...
