Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.
Prif Awduron: | Mehta, P, Mitchell, A, Tysoe, C, Caswell, R, Owens, M, Vincent, T |
---|---|
Fformat: | Journal article |
Iaith: | English |
Cyhoeddwyd: |
2012
|
Eitemau Tebyg
-
Windswept lower limb deformities in patients with hypophosphataemic rickets
gan: Ali Al Kaissi, et al.
Cyhoeddwyd: (2013-12-01) -
Seven novel mutations in the PEX gene indicate molecular heterogeneity for X-linked hypophosphataemic rickets.
gan: Dixon, P, et al.
Cyhoeddwyd: (1996) -
Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis.
gan: Read, A, et al.
Cyhoeddwyd: (1986) -
X-linked hypophosphataemic rickets due to pseudo-exons of the PHEX gene.
gan: Christie, P, et al.
Cyhoeddwyd: (2000) -
Bridging markers defining the map position of X linked hypophosphataemic rickets.
gan: Thakker, R, et al.
Cyhoeddwyd: (1987)