uu.seUppsala universitets publikasjoner
Endre søk
RefereraExporteraLink to record
Permanent link

Direct link
Referera
Referensformat
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Annet format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annet språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf
Familial transient erythroblastopenia of childhood is associated with the chromosome 19q13.2 region but not caused by mutations in coding sequences of the ribosomal protein S19 (RPS19) gene
Vise andre og tillknytning
2002 (engelsk)Inngår i: Br J Haematol, Vol. 119, nr 1, s. 261-4Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

Transient erythroblastopenia of childhood (TEC) is a rare condition, which at onset may be difficult to distinguish from Diamond-Blackfan anaemia (DBA). We have previously shown that mutations in the ribosomal protein S19 gene (RPS19) cause DBA. In order to clarify whether TEC and DBA are allelic, we investigated the segregation of markers spanning the RPS19 gene region on chromosome 19q13.2 and performed sequence analysis of all exons in the RPS19 gene in seven TEC sibling pairs. Linkage analysis supported allelism for TEC and DBA at the RPS19 gene locus and implies molecular mechanisms other than structural mutations in the RPS19 gene.

sted, utgiver, år, opplag, sider
2002. Vol. 119, nr 1, s. 261-4
Emneord [en]
Adult, Child, Chromosomes; Human; Pair 19/*genetics, Erythroblasts, Genotype, Hematologic Diseases/*genetics, Humans, Linkage (Genetics)/genetics, Mutation/genetics, Pedigree, Research Support; Non-U.S. Gov't, Ribosomal Proteins/*genetics, Sequence Analysis
HSV kategori
Forskningsprogram
Molekylär genetik
Identifikatorer
URN: urn:nbn:se:uu:diva-373435OAI: oai:DiVA.org:uu-373435DiVA, id: diva2:1301238
Konferanse
2005-09-20T18:44:00.000+02:00
Merknad

article; 2016-02-29T12:57:49.774+01:00

Tilgjengelig fra: 2019-04-01 Laget: 2019-04-01 Sist oppdatert: 2019-04-01

Open Access i DiVA

Fulltekst mangler i DiVA

Andre lenker

http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-73177

Søk utenfor DiVA

GoogleGoogle Scholar

urn-nbn

Altmetric

urn-nbn
Totalt: 4 treff
RefereraExporteraLink to record
Permanent link

Direct link
Referera
Referensformat
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Annet format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annet språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf