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

E-ISSN： 1538-7836|10|11|2407-2409

ISSN： 1538-7933

Source： JOURNAL OF THROMBOSIS AND HAEMOSTASIS, Vol.10, Iss.11, 2012-11, pp. : 2407-2409

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

Successful abdominal operation without replacement therapy in a patient with combined factor V (FV) and FVIII deficiency due to novel homozygous mutation in LMAN1

HAEMOPHILIA, Vol. 21, Iss. 6, 2015-11 ,pp. : e492-e494

John Wiley & Sons Inc

Access to resources Recommend Favorite

Splice‐site mutation in the Bmpr1b gene of the mouse causes optic nerve head dysgenesis and retinal gliosis

ACTA OPHTHALMOLOGICA, Vol. 94, Iss. S256, 2016-10 ,pp. : n/a-n/a

John Wiley & Sons Inc

Access to resources Recommend Favorite

Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either LMAN1 or MCFD2, in a Japanese family

HAEMOPHILIA, Vol. 24, Iss. 1, 2018-01 ,pp. : e13-e16

John Wiley & Sons Inc

Access to resources Recommend Favorite

A Point Mutation in the First Splice Donor Leads to Reduced Oncogenic Properties of the Adenovirus Serotype 12 E1A Gene

Intervirology, Vol. 46, Iss. 1, 2003-02 ,pp. : 1-16

Karger

Access to resources Recommend Favorite

Hailey‐Hailey disease due to ATP2C1 splice site mutation, successfully treated with minocycline hydrochloride

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Vol. 32, Iss. 1, 2018-01 ,pp. : e19-e20

John Wiley & Sons Inc

Access to resources Recommend Favorite