Analysis of newly detected mutations in the MCFD2 gene giving rise to combined deficiency of coagulation factors V and VIII.

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Combined deficiency of coagulation factors V and VIII: an update Global analyses of Chromosome 17 and 18 genes of lung telocytes compared with mesenchymal stem cells, fibroblasts, alveolar type II cells, airway epithelial cells, and lymphocytes.

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Analysis of newly detected mutations in the MCFD2 gene giving rise to combined deficiency of coagulation factors V and VIII.

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http://www.wikidata.org/entity/Q38992143

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2011 nî lūn-bûn

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2011年の論文

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2011年学术文章

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2011年学术文章

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2011年学术文章

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Analysis of newly detected mut ...... oagulation factors V and VIII.

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Analysis of newly detected mut ...... oagulation factors V and VIII.

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Analysis of newly detected mut ...... oagulation factors V and VIII.

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Analysis of newly detected mut ...... oagulation factors V and VIII.

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The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103

New insights into multiple coagulation factor deficiency from the solution structure of human MCFD2

Crystal structure of the LMAN1-CRD/MCFD2 transport receptor complex provides insight into combined deficiency of factor V and factor VIII

Structural basis for the cooperative interplay between the two causative gene products of combined factor V and factor VIII deficiency

LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway

EF-hand domains of MCFD2 mediate interactions with both LMAN1 and coagulation factor V or VIII.

Molecular basis of LMAN1 in coordinating LMAN1-MCFD2 cargo receptor formation and ER-to-Golgi transport of FV/FVIII

Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2

Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.

Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping.

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scholarly article

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10.1111/J.1365-2516.2011.02529.X

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Ylva Lindqvist

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2011-04-15T00:00:00Z

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21492322

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Analysis of newly detected mutations in the MCFD2 gene giving rise to combined deficiency of coagulation factors V and VIII.

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P2860

P2860

Analysis of newly detected mutations in the MCFD2 gene giving rise to combined deficiency of coagulation factors V and VIII.

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P698