Literature DB >> 18815189

Nonsense mutations of the alpha-spectrin gene in hereditary pyropoikilocytosis.

Whitney Tolpinrud, Yelena D Maksimova, Bernard G Forget, Patrick G Gallagher.   

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Year:  2008        PMID： 18815189     DOI： 10.3324/haematol.13639

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  4 in total

1.  Imaging of the diffusion of single band 3 molecules on normal and mutant erythrocytes.

Authors:  Gayani C Kodippili; Jeff Spector; Caitlin Sullivan; Frans A Kuypers; Richard Labotka; Patrick G Gallagher; Ken Ritchie; Philip S Low
Journal:  Blood       Date:  2009-04-15       Impact factor: 22.113

2.  Study on Management of Blood Transfusion Therapy in Patients with Hereditary Spherocytosis.

Authors:  Shiyue Ma; Lingjian Tang; Chaoli Wu; Hui Tang; Xue Pu; Jinhong Niu
Journal:  Appl Bionics Biomech       Date:  2022-01-28       Impact factor: 1.781

3.  Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis.

Authors:  Shiyue Ma; Jinqiu Qin; Aiqiu Wei; Xiaohong Li; Yuanyuan Qin; Lin Liao; Faquan Lin
Journal:  Mol Med Rep       Date:  2018-02-26       Impact factor: 2.952

4.  Whole-exome sequencing enables correct diagnosis and surgical management of rare inherited childhood anemia.

Authors:  Monica Khurana; Donna Edwards; Frederic Rescorla; Caroline Miller; Ying He; Elizabeth Sierra Potchanant; Grzegorz Nalepa
Journal:  Cold Spring Harb Mol Case Stud       Date:  2018-10-01
  4 in total

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