|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
3
|
|
pubmed:dateCreated |
2009-3-2
|
|
pubmed:abstractText |
To identify pathogenic mutant alleles of the PYGM gene in "genetic manifesting heterozygous" patients with McArdle disease-that is, those in whom we could only find a sole mutant allele by genomic DNA analysis.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Mar
|
|
pubmed:issn |
1468-6244
|
|
pubmed:author |
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
46
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
198-202
|
|
pubmed:meshHeading |
pubmed-meshheading:19251976-Adult,
pubmed-meshheading:19251976-Computer Simulation,
pubmed-meshheading:19251976-Gene Expression,
pubmed-meshheading:19251976-Glycogen Phosphorylase, Muscle Form,
pubmed-meshheading:19251976-Glycogen Storage Disease Type V,
pubmed-meshheading:19251976-Heterozygote,
pubmed-meshheading:19251976-Humans,
pubmed-meshheading:19251976-Male,
pubmed-meshheading:19251976-Middle Aged,
pubmed-meshheading:19251976-Muscle, Skeletal,
pubmed-meshheading:19251976-Mutation,
pubmed-meshheading:19251976-Polymerase Chain Reaction,
pubmed-meshheading:19251976-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:19251976-RNA, Messenger,
pubmed-meshheading:19251976-Sequence Analysis, DNA
|
|
pubmed:year |
2009
|
|
pubmed:articleTitle |
Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA.
|
|
pubmed:affiliation |
Centro de Investigación, Hospital Universitario 12 de Octubre, Avda Córdoba s/n, 28041 Madrid, Spain.
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
