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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1998-4-29
|
| pubmed:abstractText |
A new genetic disorder (Hyperferritinemia and Cataract Syndrome) characterized by a combination of high serum ferritin level and congenital bilateral nuclear cataract has been recently described. This disease is transmitted as autosomal dominant trait and is due to mutations in the ferritin L gene (FTL). FTL gene has been localized to 19q13.3-qter by somatic cell hybrids. In this work we present the precise mapping of FTL gene on chromosome 19q13.3 using in situ fluorescence hybridization.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:issn |
0003-3995
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
40
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
227-8
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:9526618-Apoferritins,
pubmed-meshheading:9526618-Cataract,
pubmed-meshheading:9526618-Chromosome Banding,
pubmed-meshheading:9526618-Chromosomes, Human, Pair 19,
pubmed-meshheading:9526618-Ferritins,
pubmed-meshheading:9526618-Genes, Dominant,
pubmed-meshheading:9526618-Humans,
pubmed-meshheading:9526618-In Situ Hybridization, Fluorescence,
pubmed-meshheading:9526618-Syndrome
|
| pubmed:year |
1997
|
| pubmed:articleTitle |
Assignment of ferritin L gene (FTL) to human chromosome band 19q13.3 by in situ hybridization.
|
| pubmed:affiliation |
Servizio di Genetica Medica, IRCCS-Ospedale CSS, San Giovanni Rotondo, Italy.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|