Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.
Príomhchruthaitheoirí: | Mehta, P, Mitchell, A, Tysoe, C, Caswell, R, Owens, M, Vincent, T |
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Formáid: | Journal article |
Teanga: | English |
Foilsithe / Cruthaithe: |
2012
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Míreanna comhchosúla
Míreanna comhchosúla
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Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis.
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X-linked hypophosphataemic rickets due to pseudo-exons of the PHEX gene.
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Bridging markers defining the map position of X linked hypophosphataemic rickets.
de réir: Thakker, R, et al.
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