Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group.
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MHF1-MHF2, a histone-fold-containing protein complex, participates in the Fanconi anemia pathway via FANCMFAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required for functional integrity of the FA-BRCA DNA repair pathwayA never-ending story: the steadily growing family of the FA and FA-like genesAluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia.Systematic evaluation of underlying defects in DNA repair as an approach to case-only assessment of familial prostate cancerDNA interstrand crosslink repair and cancer.Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.Mutations in Fanconi anemia genes and the risk of esophageal cancer.Frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk.
P2860
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P2860
Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on July 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Identification and characteriz ...... to FA-L complementation group.
@en
Identification and characteriz ...... to FA-L complementation group.
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type
label
Identification and characteriz ...... to FA-L complementation group.
@en
Identification and characteriz ...... to FA-L complementation group.
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prefLabel
Identification and characteriz ...... to FA-L complementation group.
@en
Identification and characteriz ...... to FA-L complementation group.
@nl
P2093
P2860
P356
P1433
P1476
Identification and characteriz ...... to FA-L complementation group
@en
P2093
Amom Ruhikanta Meetei
David A Williams
Francis P Lach
Jennifer Schulte
Michael Jansen
Michelle Kirby
Sat D Batish
Thiyam Ramsing Singh
P2860
P304
P356
10.1002/HUMU.21032
P577
2009-07-01T00:00:00Z