A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481 insA [6]

Journal of Medical Genetics

Volumn 39, Issue 1, 2002, Pages 57-61

  Saviozzi, S ^a   Saluto, A ^a   Taylor, A M R ^a   Last, J I L ^a   Trebini, F ^a   Paradiso, M C ^a   Grosso, E ^a   Funaro, A ^a   Ponzio, G ^a   Migone, N ^a   Brusco, A ^a  

^a Biologia e Biochimica   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ATAXIA TELANGIECTASIA; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; FEMALE; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; LETTER; ONSET AGE; PRIORITY JOURNAL;

ADENINE; ADULT; ATAXIA TELANGIECTASIA; FEMALE; GENOTYPE; GUANINE; HETEROZYGOTE DETECTION; HUMANS; MALE; MIDDLE AGED; MUTAGENESIS, INSERTIONAL; PEDIGREE; POINT MUTATION;

ATAXIA; ATAXIA TELANGIECTASIA;

EID: 18244405365     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

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3. A single ataxia telangiectasia gene with a product similar to Pl-3 kinase
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6. ATM displays its many talents
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18. Nijmegen breakage syndrome
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41. Critical role for Atm in suppressing V(D)J recombination-driven thymic lymphoma
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