Literature DB >> 30198572

Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia.

Chupong Ittiwut1,2, Rungrote Natesirinilkul3, Fuanglada Tongprasert4, Lalita Sathitsamitphong3, Chane Choed-Amphai3, Kanda Fanhchaksai3, Pimlak Charoenkwan3, Kanya Suphapeetiporn1,2, Vorasuk Shotelersuk1,2.   

Abstract

Entities:  

Keywords:  fetal anaemia; hereditary pyropoikilocytosis; hydrops fetalis; red blood cell membrane disorders; whole exome sequencing

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Year:  2018        PMID： 30198572     DOI： 10.1111/bjh.15559

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


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  2 in total

1.  Exome sequencing for diagnosis of congenital hemolytic anemia.

Authors:  Lamisse Mansour-Hendili; Abdelrazak Aissat; Bouchra Badaoui; Mehdi Sakka; Christine Gameiro; Valérie Ortonne; Orianne Wagner-Ballon; Serge Pissard; Véronique Picard; Khaldoun Ghazal; Michel Bahuau; Corinne Guitton; Ziad Mansour; Mylène Duplan; Arnaud Petit; Nathalie Costedoat-Chalumeau; Marc Michel; Pablo Bartolucci; Stéphane Moutereau; Benoît Funalot; Frédéric Galactéros
Journal:  Orphanet J Rare Dis       Date:  2020-07-08       Impact factor: 4.123

2.  A novel mutation in SPTA1 identified by whole exome sequencing in a Chinese family for hereditary elliptocytosis presenting with hyperbilirubinemia: A case report.

Authors:  Yaming Xi; Lina Wang; Pengpeng Zhang; Mingfeng Jia; Zijian Li
Journal:  Medicine (Baltimore)       Date:  2019-05       Impact factor: 1.817
  2 in total

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