A synonymous mutation in LMAN1 creates an ectopic splice donor site and causes combined deficiency of FV and FVIII

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Combined deficiency of coagulation factors V and VIII: an update Characterization of an apparently synonymous F5 mutation causing aberrant splicing and factor V deficiency.

P2860

Q26820265-E89A6449-25FE-4BA2-A090-E98A88BBA572 Q38932615-E77943E5-A0F6-4BF4-AB16-88006A05247B

P2860

A synonymous mutation in LMAN1 creates an ectopic splice donor site and causes combined deficiency of FV and FVIII

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http://www.wikidata.org/entity/Q36585803

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2012 nî lūn-bûn

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2012年の論文

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2012年論文

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2012年論文

@zh-hant

2012年論文

@zh-hk

2012年論文

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A synonymous mutation in LMAN1 ...... ned deficiency of FV and FVIII

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A synonymous mutation in LMAN1 ...... ned deficiency of FV and FVIII

@en

type

Item

label

A synonymous mutation in LMAN1 ...... ned deficiency of FV and FVIII

@ast

A synonymous mutation in LMAN1 ...... ned deficiency of FV and FVIII

@en

prefLabel

A synonymous mutation in LMAN1 ...... ned deficiency of FV and FVIII

@ast

A synonymous mutation in LMAN1 ...... ned deficiency of FV and FVIII

@en

P1476

A synonymous mutation in LMAN1 ...... ned deficiency of FV and FVIII

@en

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B Zhang

http://www.w3.org/2001/XMLSchema#string

C Zheng

http://www.w3.org/2001/XMLSchema#string

M Zhu

http://www.w3.org/2001/XMLSchema#string

S Majumdar

http://www.w3.org/2001/XMLSchema#string

V DAS

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P2860

Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII

ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families

Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex

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

High frequency of LMAN1 abnormalities in colorectal tumors with microsatellite instability

Listening to silence and understanding nonsense: exonic mutations that affect splicing

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

Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency.

Hearing silence: non-neutral evolution at synonymous sites in mammals.

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

P304

2407-2409

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scholarly article

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10.1111/JTH.12002

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P478

http://www.w3.org/2001/XMLSchema#string

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2012-11-01T00:00:00Z

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255821951

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23006835

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P932

3563766

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A synonymous mutation in LMAN1 creates an ectopic splice donor site and causes combined deficiency of FV and FVIII

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P2860

P2860

A synonymous mutation in LMAN1 creates an ectopic splice donor site and causes combined deficiency of FV and FVIII

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type

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698

P932