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Balanced translocation t(4q; lOq) in infantile spinal muscular atrophy

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References

  1. Cobben JM, Steege G van der, Grootscholten P, Visser M de, Scheffer H, Buys CHCM (1995) Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet 57:805–808

    PubMed  CAS  Google Scholar 

  2. Hahnen E, Forkert R, Marke C, Rudnik-Schöneborn S, Schönling J, Zerres K, Wirth B (1995) Molecular analysis of candidate genes on chromosome 5ql3 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum Mol Genet 4: 1927–1933

    Article  PubMed  CAS  Google Scholar 

  3. Lefebvre S, Burglen L, Reboullet S, Clermont 0, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, et al (1995) Identification and characterization of a spinal muscular atrophy determining gene. Cell 80: 155–165

    Article  PubMed  CAS  Google Scholar 

  4. Pfeiffer RA, Jünemann A, Lorenz B, Sieber E (1995) Aplasia of the optic nerve in two cases of partial trisomy 10q24-ter. Clin Genet 48: 183–187

    Article  PubMed  CAS  Google Scholar 

  5. Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE (1995) Deletions in the survival motor neuron gene on 5ql3 in autosomal recessive spinal muscular atrophy. Hum Mol Genet 4: 631–634

    Article  PubMed  CAS  Google Scholar 

  6. Rudnik-Schöneborn S, Forkert R, Hahnen E, Wirth B, Zerres K (1996) Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings. Neuropediatrics 27: 8–15

    Article  PubMed  Google Scholar 

  7. Rudnik-Schöneborn S, Wirth B, Hahnen E, Kreiß-Nachtsheim M, Zerres K (1996) Spinale Muskelatrophien — klinische Formen und Stand der molekulargenetischen Diagnostik. Med Genetik 8: 179–186

    Google Scholar 

  8. Velasco E, Valero C, Valero A, Moreno F, Hernández-Chico C (1996) Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype. Hum Mol Genet 5: 257–263

    Article  PubMed  CAS  Google Scholar 

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Hofner, G., Nährlich, L. & Lauffer, H. Balanced translocation t(4q; lOq) in infantile spinal muscular atrophy. Eur J Pediatr 156, 896–897 (1997). https://doi.org/10.1007/BF03260102

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