Disease and mutation: correlations coming to fruition
- 30 April 2020
- journal article
- editorial
- Published by American Society of Hematology in Blood
- Vol. 135 (18), 1514-1515
- https://doi.org/10.1182/blood.2020005451
Abstract
In this issue of Blood, Jung et al(1) provide a comprehensive study of the manifestations and clinical course of patients with a particular subtype of Fanconi anemia, FA-B, characterizing the associated genetic variations in the corresponding FANCB gene and their mutational effects and drawing sophisticated genotype-phenotype correlations.This publication has 7 references indexed in Scilit:
- Association of clinical severity with FANCB variant type in Fanconi anemiaBlood, 2020
- Genotype-phenotype associations in Fanconi anemia: A literature reviewBlood Reviews, 2019
- A Japanese patient with RAD51‐associated Fanconi anemiaAmerican Journal of Medical Genetics Part A, 2019
- The Fanconi Anemia Pathway in CancerAnnual Review of Cancer Biology, 2019
- Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotypeMolecular Genetics & Genomic Medicine, 2017
- Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemiaJCI Insight, 2017
- Genotype–phenotype correlations in Fanconi anemiaMutation research. Reviews in mutation research, 2009