Figure S3 from Ablation of the Brca1–Palb2 Interaction Phenocopies Fanconi Anemia in Mice
, 2023 Dongju Park +10 more
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Fanconi Anemia in Portugal: retrospective study of 34 years of investigation at National Health Institute (1980-2014) [PDF]
, 2016 A Anemia de Fanconi (AF) é uma doença recessiva rara, com uma frequência estimada de 4 a 7 por 1 000 000 de nascimentos. Caraterizase por malformações congénitas, falência medular e hipersensibilidade a agentes clastogénicos de DNA.
Ambrósio, Ana Paula +6 more
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Fanconi anemia type C–deficient hematopoietic cells are resistant to TRAIL (TNF-related apoptosis-inducing ligand)-induced cleavage of pro-caspase-8 [PDF]
, 2004 Uwe Platzbecker +6 more
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Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia [PDF]
, 2022 Anna Repczyńska +10 more
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Novel homozygous mutation in the FANCA gene (c.2222G>A) in a Chinese girl of Fanconi anemia
Pediatric DiscoveryFanconi anemia is the most common inherited bone marrow failure syndrome. Its clinical manifestations include congenital dysplasia, bone marrow hematopoietic failure and tumor susceptibility.
Wen Xianhao +3 more
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RECQL5 and BLM exhibit divergent functions in cells defective for the Fanconi anemia pathway
, 2014 Tae Moon Kim +5 more
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Dental management of Fanconi anemia: a rare congenital disorder
Journal of Rare DiseasesPurpose Fanconi anemia is a rare inherited genetic disorder that is characterized by all three defective blood cell lines such as reduced red blood cells, platelets, and white blood cells.
Jacqueline Jacinta Dias +2 more
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Stabilizing and Remodeling the Blocked DNA Replication Fork: Anchoring FANCM and the Fanconi Anemia Damage Response [PDF]
, 2010 Larry H. Thompson, Nigel J. Jones
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