Genomic

Dataset Information

0

Longitudinal Study of the Porphyrias


ABSTRACT:

This is an observational, longitudinal study of approximately 800 individuals with various types of porphyria. Those participants will be evaluated annually for 5 years, or longer if they agree.
Participation in this project will include:

  • Participating in annual visits or contacts.
  • Providing samples, including blood, buccal cells (cells from inside of the mouth), saliva, and urine. The type of samples and amounts may vary from person to person, depending on the type of porphyria.
  • Giving permission for samples to be stored and used for porphyrias research.
  • Granting permission to obtain your medical records.
  • Providing information about your medical history and family history.
  • Completing a questionnaire about your porphyria symptoms and quality of life.

PROVIDER: phs001278 | dbGaP |

SECONDARY ACCESSION(S): PRJNA369451PRJNA369452

REPOSITORIES: dbGaP

Dataset's files

Source:
Action DRS
GapExchange_phs001278.v1.p1.xml Xml
dbGaPEx2.1.5.xsd Other
phs001278.v1-Documents.zip Other
Study_Report.phs001278.PC_7201.v1.p1.MULTI.pdf Pdf
manifest_phs001278.PC_7201.v1.p1.c1.GRU-IRB-PUB.pdf Pdf
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