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ISPD encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Zusätzlich bieten wir Ihnen ISPD Antikörper (28) und ISPD Proteine (3) und viele weitere Produktgruppen zu diesem Protein an.
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ISPD gene homozygous deletion as a prenatal manifestation of Walker-Warburg syndrome has been found in 3 female fetuses of one family.
Reduced levels of GYLTL1B and ISPD mRNA associated with increased patient mortality and are the likely cause of alphaDG hypoglycosylation in ccRCC.
study describes a new homozygous missense mutation c.367G>A (p.Gly123Arg) in the ISPD gene in a family of Pakistani origin with 2 cousins from consanguineous parents affected with a congenital muscular dystrophy (CMD (zeige ACAN ELISA Kits)) /early limb-girdle muscular dystrophy intermediate phenotype and CMD (zeige ACAN ELISA Kits) respectively
study report the involvement of the ISPD gene in milder dystroglycanopathy phenotypes ranging from congenital muscular dystrophy to limb-girdle muscular dystrophy and identified allelic ISPD variants in nine cases belonging to seven families
we identified a novel homozygous c.161G>C/p.G54A variant in ISPD in patients with limb-girdle muscular dystrophy
TMEM5 mutations were frequently associated with gonadal dysgenesis and neural tube defects, and ISPD mutations were frequently associated with brain vascular anomalies.
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan.
we show that activated NOTCH1 and ZMIZ1 collaborate to induce T-ALL in mice
This study demonistrated that the axonal guidance defects observed in ispd mutant mice.
This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants.
isoprenoid synthase domain containing
, 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein
, isoprenoid synthase domain-containing protein
, 4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog
, notch1-induced protein