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首页  >  多肽  >  Human PMM2 Peptide
PMM2 (基因名), Phosphomannomutase 2 (蛋白名), PMM2_HUMAN.
产品名称:

Human PMM2/ Phosphomannomutase 2 Peptide

货号:

-

监管等级:
商标:
EIAab®
种属:
Human
序列:
预估分子量:
28kDa (monomer)
应用:
WB
形态:
Lyophilized powder
表征:
The peptide is characterized by mass spectroscopy
溶液澄清度:
In DMSO clear solution
Human PMM2 Peptide
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Human PMM2 Peptide
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该产品尚未在任何出版物中被引用。

[1].
"Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)."

[2].
"Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients."

[3].
"A new insight into PMM2 mutations in the French population."

[4].
"DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)."

[5].
"Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry."

[6].
"Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1."

[7].
"Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)."

[8].
"PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families."

[9].
"Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1."

[10].
"Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping."
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