A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome-Reference-Cited by-同舟云学术

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A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome

Published:2020-04-13 Issue:2 Volume:43 Page:e250-e254
ISSN:1077-4114
Container-title:Journal of Pediatric Hematology/Oncology
language:en
Short-container-title:

Author:

Suzuki Tomoko,Togawa Takao,Kanno Hitoshi,Ogura Hiromi,Yamamoto Toshiyuki,Sugiura Takahiro,Kouwaki Masanori,Saitoh Shinji

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Oncology,Hematology,Pediatrics, Perinatology and Child Health

Reference17 articles.

1. Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders;Da Costa;Blood Rev,2013

2. Abnormalities of the erythrocyte membrane;Gallagher;Pediatr Clin North Am,2013

3. Hereditary elliptocytosis: spectrin and protein 4.1R;Gallagher;Semin Hematol,2004

4. Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis;Niss;Blood Cells Mol Dis,2016

5. Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46;Wilmotte;J Clin Invest,1993

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