Linked Life Data

5925065

Source:http://linkedlifedata.com/resource/pubmed/id/5925065

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
754
pubmed:dateCreated
1967-2-5
pubmed:abstractText
Studies of four stoneforming cystinuric subjects from three unrelated pedigrees indicated that each was heterozygous for two of the three described mutant genes producing cystinuria ( I, II, III). Their genotypes were I-II, II-III, I-III, and I-III, respectively. These doubly heterozygous patients were phenotypically indistinguishable from cystinuric homozygotes of genotype I-I, II-I, or III-III. The data provide the first direct evidence that all of the known mutations responsible for the genetic heterogeneity in cystinuria are allelic.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0036-8075
pubmed:author
pubmed:issnType
Print
pubmed:day
9
pubmed:volume
154
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1341-3
pubmed:dateRevised
2007-8-17
pubmed:meshHeading
pubmed:year
1966
pubmed:articleTitle
Cystinuria: genetic heterogeneity and allelism.
pubmed:publicationType
Journal Article, In Vitro