Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.
about
The congenital disorders of glycosylation: a multifaceted group of syndromes.Genetic defects in the human glycome.Pitfalls and drawbacks in screening of congenital disorders of glycosylation.Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum.A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2.Glycosylation and stem cells: Regulatory roles and application of iPSCs in the study of glycosylation-related disorders.Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).Molecular cloning and functional analysis of the phosphomannomutase (PMM) gene from Dendrobium officinale and evidence for the involvement of an abiotic stress response during germination.
P2860
Q34504298-C478A159-106A-4493-9329-3070DAFADEB9Q34534962-32BDE1A7-9D8F-44A9-A4F1-3262A1E8A59EQ35839112-10B3F93D-88BF-4B04-B53F-42DFD9B4223FQ36003995-ABC382FF-DCD7-4533-8D17-6B00F3E12B8CQ38290461-35B3A6E5-29AC-40AB-8B9F-BC61D5CE6A8FQ38964383-E0503395-547F-4A6F-B491-46AFB1BD85B0Q39548423-6A39D225-9D68-4A69-8C0C-C6EFD2A0BA26Q41929157-8226FBF8-B28A-4152-B6EC-562897C2B02FQ48829716-A6CA2916-4C75-4D48-92E0-1F52827D889BQ50469011-4C775188-2AA1-4768-80DF-862201C9B121
P2860
Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
2001年學術文章
@zh-hant
name
Functional significance of PMM ...... disorders of glycosylation Ia.
@en
Functional significance of PMM ...... disorders of glycosylation Ia.
@nl
type
label
Functional significance of PMM ...... disorders of glycosylation Ia.
@en
Functional significance of PMM ...... disorders of glycosylation Ia.
@nl
prefLabel
Functional significance of PMM ...... disorders of glycosylation Ia.
@en
Functional significance of PMM ...... disorders of glycosylation Ia.
@nl
P2093
P2860
P1433
P1476
Functional significance of PMM ...... disorders of glycosylation Ia.
@en
P2093
Blumenthal A
Patterson M
Peterson S
Westphal V
P2860
P304
P356
10.1097/00125817-200111000-00003
P407
P577
2001-11-01T00:00:00Z
P5875
P6179
1008790161