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Novel compound heterozygous mu...
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Buan-nasc
Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.
Sonraí bibleagrafaíochta
Príomhchruthaitheoirí:
Mehta, P
,
Mitchell, A
,
Tysoe, C
,
Caswell, R
,
Owens, M
,
Vincent, T
Formáid:
Journal article
Teanga:
English
Foilsithe / Cruthaithe:
2012
Stoc
Cur síos
Míreanna comhchosúla
Amharc foirne
Míreanna comhchosúla
Windswept lower limb deformities in patients with hypophosphataemic rickets
de réir: Ali Al Kaissi, et al.
Foilsithe / Cruthaithe: (2013-12-01)
Seven novel mutations in the PEX gene indicate molecular heterogeneity for X-linked hypophosphataemic rickets.
de réir: Dixon, P, et al.
Foilsithe / Cruthaithe: (1996)
Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis.
de réir: Read, A, et al.
Foilsithe / Cruthaithe: (1986)
X-linked hypophosphataemic rickets due to pseudo-exons of the PHEX gene.
de réir: Christie, P, et al.
Foilsithe / Cruthaithe: (2000)
Bridging markers defining the map position of X linked hypophosphataemic rickets.
de réir: Thakker, R, et al.
Foilsithe / Cruthaithe: (1987)