OMIX002295

1Summary
Title Identification and Functional Characterization of Compound Heterozygous CYP11B1 Gene Mutations
Description We identified compound heterozygous mutations in CYP11B1, a known c. 595 + 1 G >A mutation and a novel large deletion, of a Chinese family by Sanger sequencing.
Organism Homo sapiens
Data Type Other Type of Genomic Data
Data Accessibility Controlled-access
BioProject PRJCA013031
Release Date 2025-12-31
Submitter Xinguo Hou (houxinguo@sdu.edu.cn)
Organization Qilu Hospital of Shandong University
Submission Date 2022-11-07
2Files & Download

The data cannot be downloaded as it has not yet been registered in the Human Genetic Resource Management Platform of MOST.

File ID File Title Number/Samples File Type File Size File Suffix Download
OMIX002295-01 Sanger sequencing results of the family members 4 Other Type of Genomic Data 1012.0 KB zip Unavailable
3Relevant Publications
Paper Title Journal Name Publish Time Accession Citing Type

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