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1.
New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.
Mol Vis
; 21: 857-70, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26321861
2.
Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.
Mol Vis
; 19: 654-64, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23559859
3.
Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.
Mol Vis
; 19: 1707-22, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23922489
4.
Clinical pharmacogenomic testing of KRAS, BRAF and EGFR mutations by high resolution melting analysis and ultra-deep pyrosequencing.
BMC Cancer
; 11: 406, 2011 Sep 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-21943394
5.
Detection of genomic variations in BRCA1 and BRCA2 genes by long-range PCR and next-generation sequencing.
J Mol Diagn
; 14(3): 286-93, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22426013
6.
High-resolution melting analysis of the common c.1905+1G>A mutation causing dihydropyrimidine dehydrogenase deficiency and lethal 5-fluorouracil toxicity.
Front Genet
; 3: 312, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-23335937
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