Complementation analysis in Fanconi anemia: Assignment of the reference FA-H patient to group A

American Journal of Human Genetics

Volumn 67, Issue 3, 2000, Pages 759-762

  Joenje, Hans ^a   Levitus, Marieke ^a   Waisfisz, Quinten ^a   D’andrea, Alan ^b   Garcia Higuera, Irene ^b   Pearson, Tommy ^c   Van Berkel, Carola G M ^a   Rooimans, Martin A ^a   Morgan, Neil ^d   Mathew, Christopher G ^d   Arwert, Fré ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b HARVARD MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF THE FREE STATE   (South Africa)

^d GUY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME BREAKAGE; CROSS LINKING; DISEASE SEVERITY; EXON; FANCONI ANEMIA; GENE FUSION; GENE MAPPING; GENETIC ANALYSIS; HUMAN; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PHENOTYPE; PRIORITY JOURNAL;

EID: 0033838434     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/303067     Document Type: Article

References (20)

1. Fanconi anemia
2. Drug sensitivity spectra in Fanconi anemia lymphoblastoid cell lines of defined complementation groups
3. The Fanconi anaemia group G gene FANCG is identical with XRCC9
4. The Fanconi anaemia gene FANCF encodes a novel protein with ho mology to ROM
5. Identification of two complementation groups in Fanconi anaemia
6. Positional cloning of the Fanconi anaemia group A gene
7. Fanconi anemia proteins FANCA, FANCC and FANCG/XRCC9 interact in a functional nuclear complex
8. Classification of Fanconi anemia patients by complementation analysis: Evidence for a fifth genetic subtype
9. Evidence for at least eight Fanconi anemia genes
10. Fanconi anemia genes act to suppress a crosslinker-inducible p53-independent apoptosis pathway in lymphoblastoid cell lines
11. Expression cloning of a cDNA for the major Fanconi anemia gene, FAA
12. Somatic mosaicism in Fanconi anemia: Molecular basis and clinical significance
13. Subtyping analysis of Fanconi anemia by immunoblotting and retroviral gene transfer
14. Cloning of cDNAs for Fanconi's anaemia by functional complementation
15. Cloning and characterization of murine Fanconi anemia group A gene: Fanca protein is expressed in lymphoid tissues, testis, and ovary
16. A physical interaction of the Fanconi anemia proteins FANCG/XRCC9 and FANCA
17. Spontaneous functional correction of homozygous Fanconi anemia alleles reveals novel mechanistic basis for reverse mosaicism
18. The Fanconi anemia group E gene, FANCE, maps to chromosome 6p
19. Microcell mediated chromosome transfer maps the Fanconi anemia group D gene to chromosome 3p
20. The Fanconi anemia pathway requires FAA phosphorylation and FAA/FAC nuclear accumulation