Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency.

Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency.

Item
http://www.wikidata.org/entity/Q42274382
Arachnomelia syndrome in Simmental cattle is caused by a homozygous 2-bp deletion in the molybdenum cofactor synthesis step 1 gene (MOCS1).Stroke in children: genetic and metabolic issues.Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency.Synthesis, characterization, and spectroscopy of model molybdopterin complexes.Molybdenum cofactor deficiency presenting with a parkinsonism-dystonia syndrome.Molecular basis of intramolecular electron transfer in sulfite-oxidizing enzymes is revealed by high resolution structure of a heterodimeric complex of the catalytic molybdopterin subunit and a c-type cytochrome subunit.Eukaryotic molybdopterin synthase. Biochemical and molecular studies of Aspergillus nidulans cnxG and cnxH mutants.Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.
P2860

Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency.

Item
http://www.wikidata.org/entity/Q42274382
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
Defective molybdopterin biosyn ...... olybdenum cofactor deficiency.
@en
Defective molybdopterin biosyn ...... olybdenum cofactor deficiency.
@nl
type
label
Defective molybdopterin biosyn ...... olybdenum cofactor deficiency.
@en
Defective molybdopterin biosyn ...... olybdenum cofactor deficiency.
@nl
prefLabel
Defective molybdopterin biosyn ...... olybdenum cofactor deficiency.
@en
Defective molybdopterin biosyn ...... olybdenum cofactor deficiency.
@nl
P1433
P1476
P2093
P2888
P304
P31
P356
P433
P478
P577
P6179
P698
P356
P1433
P1476
Defective molybdopterin biosyn ...... olybdenum cofactor deficiency.
@en
P2093
P2888
P304
P31
P356
P433
P478
P577
P6179
P698