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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31.

BACKGROUND: Recently a locus for antenatal Bartter syndrome associated with sensorineural deafness was mapped to human chromosome 1p31 in a single consanguineous Bedouin family (Brennan et al. Am J Hum Genet 1998; 62: 355-361). METHODS: By haplotype analysis we demonstrate linkage to this locus in nine consanguineous families with antenatal Bartter syndrome associated with sensorineural deafness. RESULTS: The critical interval compatible with linkage was refined to 4.0 cM by two novel recombinational events with markers D1S2661 and D1S475. CONCLUSION: We thereby confirmed this gene locus and distinguished this clinical subtype from other variants of Bartter syndrome as a new disease entity.[1]

References

  1. Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31. Vollmer, M., Jeck, N., Lemmink, H.H., Vargas, R., Feldmann, D., Konrad, M., Beekmann, F., van Den Heuvel, L.P., Deschenes, G., Guay-Woodford, L.M., Antignac, C., Seyberth, H.W., Hildebrandt, F., Knoers, N.V. Nephrol. Dial. Transplant. (2000) [Pubmed]
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