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

https://www.ncbi.nlm.nih.gov/pubmed/11826028
  • United Kingdom
  • Italy
  • Taylor AMR
  • case
  • Brusco A
  • Last JI
  • 2002
  • Saviozzi S
  • Saluto A
  • Trebini F
  • Paradiso MC
  • Grosso E
  • Funaro A
  • Ponzio G
  • Migone N
  • late onset variant
J Med Genet. 2002 Jan;39(1):57-61.

Saviozzi S, Saluto A, Taylor AM, Last JI, Trebini F, Paradiso MC, Grosso E, Funaro A, Ponzio G, Migone N, Brusco A.
PMID:
 
11826028
 
PMCID:
 
PMC1734960
[Indexed for MEDLINE] 
Free PMC Article

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Atassia teleangectasia
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