Mutations associated with variant phenotypes in ataxia-telangiectasia

American Journal of Human Genetics

Volumn 59, Issue 2, 1996, Pages 320-330

  McConville, Carmel M ^a,c   Stankovic, Tatjana ^a   Byrd, Philip J ^a   McGuire, Germaine M ^a   Yao, Qing Yun ^a   Lennox, Graham G ^b   Taylor, A Malcolm R ^a,c  

^a IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^b QUEEN S MEDICAL CENTRE   (United Kingdom)

^c UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA;

ADOLESCENT; ADULT; ARTICLE; ATAXIA TELANGIECTASIA; CHILD; CHROMOSOME 11Q; CLINICAL ARTICLE; CLINICAL FEATURE; FAMILY STUDY; FEMALE; GENE INSERTION; GENE MUTATION; HAPLOTYPE; HOMOZYGOTE; HUMAN; MALE; MISSENSE MUTATION; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA SPLICING;

ADOLESCENT; ADULT; AGE OF ONSET; ATAXIA TELANGIECTASIA; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; FEMALE; GENOTYPE; GREAT BRITAIN; HAPLOTYPES; HETEROZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; MUTATION; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE ANALYSIS, DNA; VARIATION (GENETICS);

EID: 0029819493     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (7)

1. Brown EJ, Albers MW, Shin TB, Ichikawa K, Keith CT, Lane WS, Schreiber SL (1994) A mammalian protein targeted by G1-arresting rapamycin-receptor complex. Nature 369:756-758
2. Byrd PJ, McConville CM, Cooper P, Parkhill J, Stankovic T, McGuire GM, Thick JA, et al (1996) Mutations revealed by sequencing the 5′ half of the gene for ataxia telangiectasia. Hum Mol Genet 5:145-149
3. Gilad S, Khosravi R, Shkedy D, Uziel T, Ziv Y, Savitsky K, Rotman G, et al (1996) Predominance of null mutations in ataxia telangiectasia. Hum Mol Genet 5:433-439
4. Hari KL, Santerre A, Sekelsky JJ, McKim KS, Boyd JB, Hawley RS (1995) The mei-41 gene of D. melanogaster is a structural and functional homolog of the human ataxia telangiectasia gene. Cell 82:815-821
5. Taylor AMR, Hernandez D, McConville CM, Woods CG, Stacey M, Biggs P, Byrd PJ et al (1996a) Malignant disease and variations in radiosensitivity in ataxia telangiectasia patients. In: Eeles RA, Ponder BAJ, Easton DF, Horwich A (eds) Genetic predisposition to cancer. Chapman and Hall, London, pp 138-151
6. Taylor AMR, Metcalfe JA, Thick J, Mak Y-F (1996t) Lymphoma and leukaemia in ataxia telangiectasia. Blood 87:423-438
7. Uziel T, Savitsky K, Platzer M, Ziv Y, Helbitz T, Nehls M, Boehm T, et al (1996) Genomic organisation of the ATM gene. Genomics 33:317-320