与杂合子RhAG突变F65S相关的常染色体显性遗传性水合过多性口血细胞增多症：一例因等位基因脱失导致杂合性漏检的病例。 - Suppr

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Autosomal dominant overhydrated stomatocytosis associated with the heterozygous RhAG mutation F65S: a case of missed heterozygosity due to allelic dropout.

作者信息

Shmukler Boris E, Mukodzi Sally, Andres Oliver, Eber Stefan, Alper Seth L

出版信息

Br J Haematol. 2013 May;161(4):602-4. doi: 10.1111/bjh.12261. Epub 2013 Feb 14.

DOI:10.1111/bjh.12261

PMID:23406318

Abstract

摘要

相似文献

Autosomal dominant overhydrated stomatocytosis associated with the heterozygous RhAG mutation F65S: a case of missed heterozygosity due to allelic dropout.

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Overhydrated stomatocytosis associated with a complex genotype including a novel mutation.

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Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S.

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Human RhAG ammonia channel is impaired by the Phe65Ser mutation in overhydrated stomatocytic red cells.

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Rh-null phenotype and stomatocytosis.

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引用本文的文献

Allelic Dropout Is a Common Phenomenon That Reduces the Diagnostic Yield of PCR-Based Sequencing of Targeted Gene Panels.

Front Genet. 2021 Feb 1;12:620337. doi: 10.3389/fgene.2021.620337. eCollection 2021.

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Autosomal dominant overhydrated stomatocytosis associated with the heterozygous RhAG mutation F65S: a case of missed heterozygosity due to allelic dropout.

作者信息

Shmukler Boris E, Mukodzi Sally, Andres Oliver, Eber Stefan, Alper Seth L

出版信息

Br J Haematol. 2013 May;161(4):602-4. doi: 10.1111/bjh.12261. Epub 2013 Feb 14.

DOI:10.1111/bjh.12261

PMID:23406318

Abstract

摘要

相似文献

Autosomal dominant overhydrated stomatocytosis associated with the heterozygous RhAG mutation F65S: a case of missed heterozygosity due to allelic dropout.

Br J Haematol. 2013 May;161(4):602-4. doi: 10.1111/bjh.12261. Epub 2013 Feb 14.

Overhydrated stomatocytosis associated with a complex genotype including a novel mutation.

J Clin Pathol. 2018 Jul;71(7):648-652. doi: 10.1136/jclinpath-2018-205018. Epub 2018 Mar 20.

Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S.

Am J Physiol Cell Physiol. 2011 Dec;301(6):C1325-43. doi: 10.1152/ajpcell.00054.2011. Epub 2011 Aug 17.

Cation-leak stomatocytosis in standard schnauzers does not cosegregate with coding mutations in the RhAG, SLC4A1, or GLUT1 genes associated with human disease.

Blood Cells Mol Dis. 2012 Apr 15;48(4):219-25. doi: 10.1016/j.bcmd.2012.02.003. Epub 2012 Mar 9.

Human RhAG ammonia channel is impaired by the Phe65Ser mutation in overhydrated stomatocytic red cells.

Am J Physiol Cell Physiol. 2012 Jan 15;302(2):C419-28. doi: 10.1152/ajpcell.00092.2011. Epub 2011 Oct 19.

Alterations of red blood cell metabolome in overhydrated hereditary stomatocytosis.

Haematologica. 2011 Dec;96(12):1861-5. doi: 10.3324/haematol.2011.045179. Epub 2011 Aug 22.

The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein.

Blood. 2009 Feb 5;113(6):1350-7. doi: 10.1182/blood-2008-07-171140. Epub 2008 Oct 17.

Rh-null phenotype and stomatocytosis.

Br J Haematol. 2021 Sep;194(5):803. doi: 10.1111/bjh.17486. Epub 2021 Apr 26.

Exclusion of the stomatin, alpha-adducin and beta-adducin loci in a large kindred with dehydrated hereditary stomatocytosis.

Am J Hematol. 1999 Jan;60(1):72-4. doi: 10.1002/(sici)1096-8652(199901)60:1<72::aid-ajh13>3.0.co;2-8.

Transient presence of stomatocytes: A clue to the diagnosis of overhydrated hereditary stomatocytosis in a child with beta-thalassemia.

J Clin Lab Anal. 2023 Dec;37(23-24):e24991. doi: 10.1002/jcla.24991. Epub 2023 Dec 13.

引用本文的文献

Allelic Dropout Is a Common Phenomenon That Reduces the Diagnostic Yield of PCR-Based Sequencing of Targeted Gene Panels.

Front Genet. 2021 Feb 1;12:620337. doi: 10.3389/fgene.2021.620337. eCollection 2021.