Comparison of Chromosome Breakage in Non-Mosaic and Mosaic Patients with Fanconi Anemia, Relatives,...
Comparison of Chromosome Breakage in Non-Mosaic and Mosaic Patients with Fanconi Anemia, Relatives, and Patients with Other Inherited Bone Marrow Failure Syndromes
About this item
Full title
Author / Creator
Publisher
Basel, Switzerland: S. Karger AG
Journal title
Language
English
Formats
Publication information
Publisher
Basel, Switzerland: S. Karger AG
Subjects
More information
Scope and Contents
Contents
Fanconi anemia (FA) is a rare inherited bone marrow failure syndrome (IBMFS). Affected individuals must be distinguished from relatives, patients with mosaicism must be identified, and patients with other IBMFS classified as non-FA. The diagnostic feature of FA is increased chromosomal breakage in blood lymphocytes cultured with diepoxybutane or mi...
Alternative Titles
Full title
Comparison of Chromosome Breakage in Non-Mosaic and Mosaic Patients with Fanconi Anemia, Relatives, and Patients with Other Inherited Bone Marrow Failure Syndromes
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmed_primary_25227706
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmed_primary_25227706
Other Identifiers
ISSN
1424-8581
E-ISSN
1424-859X
DOI
10.1159/000366251
