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1.
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.
Hum Mutat
; 25(1): 38-44, 2005 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-15580560
2.
SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.
Am J Hum Genet
; 78(2): 179-92, 2006 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-16358214
3.
Increased plasticity of genomic imprinting of Dlk1 in brain is due to genetic and epigenetic factors.
Mamm Genome
; 16(2): 127-35, 2005 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-15859358
4.
A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3.
Am J Med Genet A
; 132A(2): 136-43, 2005 Jan 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-15578624
5.
Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene.
J Am Soc Nephrol
; 12(3): 507-514, 2001 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-11181798
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