Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia-Reference-Cited by-同舟云学术

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Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia

Published:2017-12-21 Issue:3 Volume:103 Page:417-426
ISSN:0390-6078
Container-title:Haematologica
language:en
Short-container-title:Haematologica

Author:

Bottega Roberta,Nicchia Elena,Cappelli Enrico,Ravera Silvia,De Rocco Daniela,Faleschini Michela,Corsolini Fabio,Pierri Filomena,Calvillo Michaela,Russo Giovanna,Casazza Gabriella,Ramenghi Ugo,Farruggia Piero,Dufour Carlo,Savoia Anna

Publisher

Ferrata Storti Foundation (Haematologica)

Subject

Hematology

Cited by 28 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Nutrigenomic View on the Premature-Aging Disease Fanconi Anemia;Nutrients;2024-07-15

2. Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency;Clinical Genetics;2024-05-23

3. FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia;Blood Advances;2024-02-15

4. A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation;Frontiers in Genetics;2023-07-20

5. Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability;Frontiers in Oncology;2022-08-25

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