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Novel compound heterozygous mu...
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Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.
Xehetasun bibliografikoak
Egile Nagusiak:
Mehta, P
,
Mitchell, A
,
Tysoe, C
,
Caswell, R
,
Owens, M
,
Vincent, T
Formatua:
Journal article
Hizkuntza:
English
Argitaratua:
2012
Aleari buruzko argibideak
Deskribapena
Antzeko izenburuak
MARC erregistroa
Antzeko izenburuak
Windswept lower limb deformities in patients with hypophosphataemic rickets
nork: Ali Al Kaissi, et al.
Argitaratua: (2013-12-01)
Seven novel mutations in the PEX gene indicate molecular heterogeneity for X-linked hypophosphataemic rickets.
nork: Dixon, P, et al.
Argitaratua: (1996)
Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis.
nork: Read, A, et al.
Argitaratua: (1986)
X-linked hypophosphataemic rickets due to pseudo-exons of the PHEX gene.
nork: Christie, P, et al.
Argitaratua: (2000)
Bridging markers defining the map position of X linked hypophosphataemic rickets.
nork: Thakker, R, et al.
Argitaratua: (1987)