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Novel compound heterozygous mu...
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Bissovaš liŋka
Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.
Bibliográfalaš dieđut
Váldodahkkit:
Mehta, P
,
Mitchell, A
,
Tysoe, C
,
Caswell, R
,
Owens, M
,
Vincent, T
Materiálatiipa:
Journal article
Giella:
English
Almmustuhtton:
2012
Oažžasuvvandieđut
Govvádus
Geahča maid
Bargiidšearbma
Geahča maid
Windswept lower limb deformities in patients with hypophosphataemic rickets
Dahkki: Ali Al Kaissi, et al.
Almmustuhtton: (2013-12-01)
Seven novel mutations in the PEX gene indicate molecular heterogeneity for X-linked hypophosphataemic rickets.
Dahkki: Dixon, P, et al.
Almmustuhtton: (1996)
Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis.
Dahkki: Read, A, et al.
Almmustuhtton: (1986)
X-linked hypophosphataemic rickets due to pseudo-exons of the PHEX gene.
Dahkki: Christie, P, et al.
Almmustuhtton: (2000)
Bridging markers defining the map position of X linked hypophosphataemic rickets.
Dahkki: Thakker, R, et al.
Almmustuhtton: (1987)