Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy

Publisher： John Wiley & Sons Inc

E-ISSN： 1399-0004|89|1|99-103

ISSN： 0009-9163

Source： CLINICAL GENETICS, Vol.89, Iss.1, 2016-01, pp. : 99-103

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

Establishing cancer risks associated with PMS2 germline mutations in Lynch syndrome

By  

CLINICAL GENETICS, Vol. 87, Iss. 6, 2015-06 ,pp. : 533-534

John Wiley & Sons Inc

Access to resources Recommend Favorite

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections

By  

HUMAN MUTATION, Vol. 36, Iss. 12, 2015-12 ,pp. : 1145-1149

John Wiley & Sons Inc

Access to resources Recommend Favorite

TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating

By Cardoso Sarah   Robertson Stephen P.   Daniel Philip B.  

Journal of Receptors and Signal Transduction, Vol. 32, Iss. 3, 2012-06 ,pp. : 150-155

Informa Healthcare

Access to resources Recommend Favorite

Long QT Syndrome-associated Mutations in the Voltage Sensor of IKs Channels

By  

Cellular Physiology and Biochemistry, Vol. 24, Iss. 1-2, 2009-07 ,pp. : 11-16

Karger

Access to resources Recommend Favorite

Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio—A Syndrome‐Associated Mutations

By  

HUMAN MUTATION, Vol. 36, Iss. 3, 2015-03 ,pp. : 357-368

John Wiley & Sons Inc

Access to resources Recommend Favorite