Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation‐negative patient with clinically diagnosed Alagille syndrome

Publisher： John Wiley & Sons Inc

E-ISSN： 1552-4833|167|4|891-893

ISSN： 1552-4825

Source： American Journal Of Medical Genetics Part A, Vol.167, Iss.4, 2015-04, pp. : 891-893

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

Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome

By Morrissette J.J.D.   Colliton R.P.   Spinner N.B.  

Human Molecular Genetics, Vol. 10, Iss. 4, 2001-02 ,pp. : 405-413

Oxford University Press

Access to resources Recommend Favorite

Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 8, 2015-08 ,pp. : 1796-1806

John Wiley & Sons Inc

Access to resources Recommend Favorite

Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencing in a Case Previously Found to Be Negative by DHPLC and MLPA

By  

Molecular Syndromology, Vol. 4, Iss. 4, 2013-02 ,pp. : 207-210

Karger

Access to resources Recommend Favorite

Novel compound heterozygous mutations in DYNC2H1 in a patient with severe short‐rib polydactyly syndrome type III phenotype

By  

CONGENITAL ANOMALIES, Vol. 55, Iss. 3, 2015-08 ,pp. : 155-157

John Wiley & Sons Inc

Access to resources Recommend Favorite

Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report

By  

Molecular Syndromology, Vol. 8, Iss. 5, 2017-07 ,pp. : 272-277

Karger

Access to resources Recommend Favorite