Novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia C gene, FAC

Human Mutation

Volumn 7, Issue 3, 1996, Pages 264-265

  Lo Ten Foe, Jerome R ^a   Rooimans, Martin A ^a   Joenje, Hans ^a   Arwert, Fré ^a  

^a VU UNIVERSITY AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; RNA;

AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; EXON; FANCONI ANEMIA; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC COMPLEMENTATION; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SHORT SURVEY;

BASE SEQUENCE; DNA PRIMERS; EXONS; FANCONI ANEMIA; FRAMESHIFT MUTATION; HUMANS; MOLECULAR SEQUENCE DATA; NETHERLANDS; POLYMERASE CHAIN REACTION;

EID: 19144373220     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)7:3<264::AID-HUMU11>3.0.CO;2-0     Document Type: Short Survey

References (9)

1. Arwert F, Kwee ML (1989) Chromosomal breakage in response to cross-linking agents in the diagnosis of Fanconi Anemia. In Schroeder-Kurth TM, Auerbach AD, Obe O (eds): Fanconi Anemia Clinical, Cytogenetic and Experimental aspects. New York: Springer-Verlag, pp 83-92.
2. Gavish H, Dos Santos CC, Buchwald M (1993) A Leu(554)-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein. Hum Mol Genet 2:123-126.
3. Gibson RA, Hajianpour A, Murer-Orlando M, Buchwald M, Mathew CG (1993a) A nonsense mutation and exon skipping in the Fanconi anaemia group-C gene. Hum Mol Genet 2:797-799.
4. Gibson RA, Buchwald M, Roberts RG, Mathew CG (1993b) Characterization of the exon structure of the Fanconi anaemia group C gene by vectorette PCR. Hum Mol Genet 2:35-38.
5. Joenje H, Mathew C, Gluckman E (1995) Fanconi anemia research: Current status and prospects. Eur J Cancer (in press).
6. Strathdee CA, Duncan AMV, Buchwald M (1992a) Evidence for at least 4 Fanconi anaemia genes including FACC on chromosome 9. Nature Genetics 1:196-198.
7. Strathdee CA, Gavish H, Shannon WR, Buchwald M (1992b) Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature, 356:763-767; correction: 358:434.
8. Verlander PC, Lin JD, Udono MU, Zhang Q, Gibson RA, Mathew CG, Auerbach AD (1994) Mutation analysis of the Fanconi anemia gene FACC. Am J Hum Genet 54:595-601.
9. Whitney MA, Sato H, Jakobs PM, Gibson RA, Moses RE, Grompe M (1993) A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. Nature Genetics 4:202-205.