|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
5
|
|
pubmed:dateCreated |
1994-6-2
|
|
pubmed:abstractText |
The family of a male with Duchenne muscular dystrophy (DMD) and a deletion within the dystrophin gene has been studied. Polymerase chain reaction analysis of ectopic mRNA from peripheral blood T+B lymphocytes and the use of (CA)n repeat polymorphisms in and around the deleted region showed the proband's mother to be both a germline mosaic and a somatic mosaic for the deletion seen in her son. The mutation therefore occurred as a mitotic event early in embryogenesis.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
May
|
|
pubmed:issn |
0340-6717
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
93
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
541-4
|
|
pubmed:dateRevised |
2006-11-15
|
|
pubmed:meshHeading |
pubmed-meshheading:8168831-Child, Preschool,
pubmed-meshheading:8168831-Dystrophin,
pubmed-meshheading:8168831-Female,
pubmed-meshheading:8168831-Gene Deletion,
pubmed-meshheading:8168831-Germ-Line Mutation,
pubmed-meshheading:8168831-Heterozygote,
pubmed-meshheading:8168831-Humans,
pubmed-meshheading:8168831-Hybrid Cells,
pubmed-meshheading:8168831-Male,
pubmed-meshheading:8168831-Mosaicism,
pubmed-meshheading:8168831-Muscular Dystrophies,
pubmed-meshheading:8168831-Pedigree,
pubmed-meshheading:8168831-Polymerase Chain Reaction,
pubmed-meshheading:8168831-RNA, Messenger
|
|
pubmed:year |
1994
|
|
pubmed:articleTitle |
Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy.
|
|
pubmed:affiliation |
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK.
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
