ID
45965
Descripción
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
Palabras clave
Versiones (1)
- 26/3/24 26/3/24 - Madita Rudolph
Titular de derechos de autor
Jorge Di Paola, MD, University of Colorado Denver Anschutz Medical Campus, Aurora, CO, USA
Subido en
26 de marzo de 2024
DOI
Para solicitar uno, por favor iniciar sesión.
Licencia
Creative Commons BY 4.0
Comentarios del modelo :
Puede comentar sobre el modelo de datos aquí. A través de las burbujas de diálogo en los grupos de elementos y elementos, puede agregar comentarios específicos.
Comentarios de grupo de elementos para :
Comentarios del elemento para :
Para descargar modelos de datos, debe haber iniciado sesión. Por favor iniciar sesión o Registrate gratis.
dbGaP phs000873 Exome sequencing of a family with thrombocytopenia and leukemia
The dataset includes information about diagnosis (ASD - Autism Spectrum Disorder), cause of death, post-mortem interval to sample acquisition, and basic socio-demographic data.
- 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
The dataset includes information about diagnosis (ASD - Autism Spectrum Disorder), cause of death, post-mortem interval to sample acquisition, and basic socio-demographic data.
- 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
C2348585 (UMLS CUI [1,2])