Literature DB >> 31933135

A Novel Compound Heterozygous Mutation in SLC4A1 Gene Causing Severe Hereditary Spherocytosis and Distal Renal Tubular Acidosis.

Xue Tang1,2, Xia Guo3,4, Ju Gao5,6.   

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Year:  2020        PMID: 31933135     DOI: 10.1007/s12098-019-03171-4

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


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  5 in total

1.  Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis.

Authors:  Carmen Chu; Naomi Woods; Nunghathai Sawasdee; Helene Guizouarn; Bernard Pellissier; Franck Borgese; Pa-thai Yenchitsomanus; Manjula Gowrishankar; Emmanuelle Cordat
Journal:  Biochem J       Date:  2010-02-24       Impact factor: 3.857

2.  Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3.

Authors:  M L Ribeiro; N Alloisio; H Almeida; C Gomes; P Texier; C Lemos; G Mimoso; L Morlé; F Bey-Cabet; R C Rudigoz; J Delaunay; G Tamagnini
Journal:  Blood       Date:  2000-08-15       Impact factor: 22.113

3.  Compound mutations in human anion exchanger 1 are associated with complete distal renal tubular acidosis and hereditary spherocytosis.

Authors:  Yu-Hsiang Chang; Chen-Fu Shaw; Shu-Huei Jian; Kai-Hsien Hsieh; Yee-Hsuan Chiou; Pei-Jung Lu
Journal:  Kidney Int       Date:  2009-07-22       Impact factor: 10.612

4.  Hereditary spherocytosis.

Authors:  Silverio Perrotta; Patrick G Gallagher; Narla Mohandas
Journal:  Lancet       Date:  2008-10-18       Impact factor: 79.321

Review 5.  Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead.

Authors:  Toru Watanabe
Journal:  Pediatric Health Med Ther       Date:  2018-12-12
  5 in total
  1 in total

1.  Hereditary Spherocytosis With Liver Transplantation After Cirrhosis: A Case Report.

Authors:  Xueliang Yang; Wen Wang; Wanhu Fan; Lin Cai; Feng Ye; Shumei Lin; Xiaojing Liu
Journal:  Front Med (Lausanne)       Date:  2022-02-11
  1 in total

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