|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0017337,
umls-concept:C0026882,
umls-concept:C0030705,
umls-concept:C0035334,
umls-concept:C0035499,
umls-concept:C0152035,
umls-concept:C0205197,
umls-concept:C0430054,
umls-concept:C0441833,
umls-concept:C0443147,
umls-concept:C1705053,
umls-concept:C1999270
|
|
pubmed:issue |
1
|
|
pubmed:dateCreated |
2005-4-22
|
|
pubmed:abstractText |
To evaluate the prevalence of rhodopsin (RHO) mutations and the genotype-phenotype relationships in Chinese patients with autosomal dominant retinitis pigmentosa (ADRP) by conformation sensitive gel electrophoresis (CSGE) and direct DNA sequencing.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Mar
|
|
pubmed:issn |
1001-9294
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
20
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
30-4
|
|
pubmed:meshHeading |
pubmed-meshheading:15844309-Asian Continental Ancestry Group,
pubmed-meshheading:15844309-Base Sequence,
pubmed-meshheading:15844309-DNA, Antisense,
pubmed-meshheading:15844309-DNA Mutational Analysis,
pubmed-meshheading:15844309-Electrophoresis, Polyacrylamide Gel,
pubmed-meshheading:15844309-Exons,
pubmed-meshheading:15844309-Female,
pubmed-meshheading:15844309-Genotype,
pubmed-meshheading:15844309-Humans,
pubmed-meshheading:15844309-Middle Aged,
pubmed-meshheading:15844309-Molecular Sequence Data,
pubmed-meshheading:15844309-Mutation, Missense,
pubmed-meshheading:15844309-Phenotype,
pubmed-meshheading:15844309-Retinitis Pigmentosa,
pubmed-meshheading:15844309-Rhodopsin
|
|
pubmed:year |
2005
|
|
pubmed:articleTitle |
A complete screen for mutations of the rhodopsin gene in a panel of Chinese patients with autosomal dominant retinitis pigmentosa.
|
|
pubmed:affiliation |
Clinical Laboratory Center, Affiliated South-West Hospital, Third Military Medical University, Chongqing 400038. xlzhang227@yahoo.com.cn
|
|
pubmed:publicationType |
Journal Article
|
