ID
45965
Beschrijving
Principal Investigator: Jorge Di Paola, MD, University of Colorado Denver Anschutz Medical Campus, Aurora, CO, USA MeSH: Thrombocytopenia,Abnormal Erythrocytes,B-Cell Leukemia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000873 A family with a history of bleeding, variable thrombocytopenia, red cell macrocytosis and two cases of pre B-cell acute lymphoblastic leukemia was studied in a single visit. The family was assessed for bleeding history using a bleeding questionnaire. Additionally, complete blood counts were measured and whole blood was collected from five affected individuals and three unaffected individuals for DNA extraction and whole exome sequencing. The goal of this study is to determine the genetic cause of thrombocytopenia, red cell macrocytosis, and predisposition to leukemia in a family. It is hoped that the information obtained from this study will help researchers understand the genetic and molecular basis of platelet and red cell production, as well as leukemia predisposition.
Link
Trefwoorden
Versies (1)
- 26-03-24 26-03-24 - Madita Rudolph
Houder van rechten
Jorge Di Paola, MD, University of Colorado Denver Anschutz Medical Campus, Aurora, CO, USA
Geüploaded op
26 maart 2024
DOI
Voor een aanvraag inloggen.
Licentie
Creative Commons BY 4.0
Model Commentaren :
Hier kunt u commentaar leveren op het model. U kunt de tekstballonnen bij de itemgroepen en items gebruiken om er specifiek commentaar op te geven.
Itemgroep Commentaren voor :
Item Commentaren voor :
U moet ingelogd zijn om formulieren te downloaden. AUB inloggen of schrijf u gratis in.
dbGaP phs000873 Exome sequencing of a family with thrombocytopenia and leukemia
Subject - Sample Mapping - Sample Use Information
- StudyEvent: SEV1
- Eligibility Criteria
- Subject - Consent - Affection Status Information
- Pedigree Information
- Subject - Sample Mapping - Sample Use Information
- The dataset includes information about diagnosis (ASD - Autism Spectrum Disorder), cause of death, post-mortem interval to sample acquisition, and basic socio-demographic data.
- Sample - Attribute Information
Similar models
Subject - Sample Mapping - Sample Use Information
- StudyEvent: SEV1
- Eligibility Criteria
- Subject - Consent - Affection Status Information
- Pedigree Information
- Subject - Sample Mapping - Sample Use Information
- The dataset includes information about diagnosis (ASD - Autism Spectrum Disorder), cause of death, post-mortem interval to sample acquisition, and basic socio-demographic data.
- Sample - Attribute Information
C1524063 (UMLS CUI [1,2])