Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8659
pubmed:dateCreated
1989-9-11
pubmed:abstractText
The polymerase chain reaction was used to detect four mutations in the DNA of 47 unrelated patients with type I Gaucher's disease (94 Gaucher's disease alleles). Two of the mutations, 1226 and 1448, and a new mutation (XOVR) representing cross-over between the glucocerebrosidase gene and its closely linked pseudogene, were found. There were five genotypes--namely, 1226/1226, 1226/1448, 1226/XOVR, 1226/?, and ?/? (where "?" indicates that none of the four known mutations was present). Severity of the disease was assessed with a scoring index according to age at diagnosis and extent of organ involvement. Mutation 1226 was associated with a mild clinical phenotype, and mutation 1448 with a more severe phenotype. Mutation 1226 is the most common cause of Gaucher's disease in Jewish patients.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0140-6736
pubmed:author
pubmed:issnType
Print
pubmed:day
12
pubmed:volume
2
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
349-52
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed-meshheading:2569551-Adolescent, pubmed-meshheading:2569551-Adult, pubmed-meshheading:2569551-Aged, pubmed-meshheading:2569551-Alleles, pubmed-meshheading:2569551-Amino Acid Sequence, pubmed-meshheading:2569551-Child, pubmed-meshheading:2569551-Child, Preschool, pubmed-meshheading:2569551-DNA, pubmed-meshheading:2569551-Evaluation Studies as Topic, pubmed-meshheading:2569551-Female, pubmed-meshheading:2569551-Gaucher Disease, pubmed-meshheading:2569551-Gene Amplification, pubmed-meshheading:2569551-Genotype, pubmed-meshheading:2569551-Glucosidases, pubmed-meshheading:2569551-Glucosylceramidase, pubmed-meshheading:2569551-Humans, pubmed-meshheading:2569551-Infant, pubmed-meshheading:2569551-Male, pubmed-meshheading:2569551-Middle Aged, pubmed-meshheading:2569551-Molecular Sequence Data, pubmed-meshheading:2569551-Mutation, pubmed-meshheading:2569551-Oligonucleotide Probes, pubmed-meshheading:2569551-Severity of Illness Index
pubmed:year
1989
pubmed:articleTitle
Prediction of severity of Gaucher's disease by identification of mutations at DNA level.
pubmed:affiliation
Department of Molecular and Experimental Medicine, Scripps Clinic and Research Foundation, La Jolla, California.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't