Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2022 Aug 5;22:292. doi: 10.1186/s12883-022-02822-y

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

© The Author(s) 2022

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

PMC Copyright notice

Fig. 1 — Genealogical and molecular data of the Moroccan family with a novel CNV in the COLQ gene. A The family pedigree illustrates the affected patient (homozygous for the mutation) and both parents (Heterozygous carriers). The black arrow indicates the proband. B The representative amplification plots of the target gene (COLQ). C The representative amplification plots of the endogenous gene (housekeeping gene). Both Real-time PCR amplification plots show various amounts of the amplified region in the proband, both parents and two normal controls with determination of mean threshold cycle (Ct) values using QuantStudio^TM Real-Time PCR Software v1.7.1 (Applied Biosystems, Thermo Fisher Scientific). D Bar graph showed the copy number results calculated from delta-delta Ct