Accession PRJCA000809
Title Porphyria
Data Types Raw sequence reads
Organisms Homo sapiens
Description Genetic Testing for Porphyria
Sample scope Monoisolate
Release date 2018-03-27
Publication
PubMed ID Article title Journal name DOI Year
29731767 Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia. Frontiers in Genetics 10.3389/fgene.2018.00129 2018
Submitter Yongjiang    zheng  (zhengyj5@mail.sysu.edu.cn)
Organization SUN YAT-SEN university
Submission date 2018-03-27

Project Data

Resource name Description
BioSample (1) -
SAMC027163 HMBS gene
GSA (1) -
CRA000851 HMBS gene
-