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Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus.

作者信息

Andolfo Immacolata, Martone Stefania, Ribersani Michela, Bianchi Simona, Manna Francesco, Genesio Rita, Gambale Antonella, Pignataro Piero, Testi Anna Maria, Iolascon Achille, Russo Roberta

机构信息

Dip. di Medicina Molecolare e Biotecnologie Mediche, Universita degli Studi di Napoli, Federico II; CEINGE, biotecnologie avanzate, Napoli.

Department of Translational and Precision Medicine, Sapienza University, Rome, Italy.

出版信息

Haematologica. 2020 Dec 1;105(12):2883-2886. doi: 10.3324/haematol.2020.258533.

DOI:10.3324/haematol.2020.258533
PMID:33256393
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7716369/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1b9e/7716369/e705ecee327f/1052883.fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1b9e/7716369/e705ecee327f/1052883.fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1b9e/7716369/e705ecee327f/1052883.fig1.jpg

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引用本文的文献

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J Pers Med. 2024 Jun 14;14(6):636. doi: 10.3390/jpm14060636.
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Prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report.3号染色体完全父源单亲同二体的产前诊断:一例报告
Mol Cytogenet. 2021 Nov 6;14(1):50. doi: 10.1186/s13039-021-00569-8.
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SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
SLC25A38 先天性铁粒幼细胞性贫血:24 个家系的 31 名个体的表型和基因型,包括 11 个新突变,并对文献进行了回顾。
Hum Mutat. 2021 Nov;42(11):1367-1383. doi: 10.1002/humu.24267. Epub 2021 Aug 5.
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Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients.遗传性红细胞疾病的复杂遗传模式:155 例患者的病例系列研究。
Genes (Basel). 2021 Jun 23;12(7):958. doi: 10.3390/genes12070958.
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Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias.遗传性贫血诊断与研究的遗传学和基因组学方法
Front Physiol. 2020 Dec 22;11:613559. doi: 10.3389/fphys.2020.613559. eCollection 2020.