Publication | Open Access

Hypomorphic Mutations in the Gene Encoding a Key Fanconi Anemia Protein, FANCD2, Sustain a Significant Group of FA-D2 Patients with Severe Phenotype

Fa-d2 PatientsGenetic DisorderGeneticsMolecular BiologyMolecular GeneticsDisease Gene IdentificationMedicineSevere PhenotypeHypomorphic Mutations