Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes

Congenit Anom (Kyoto). 2018 Sep;58(5):173-175. doi: 10.1111/cga.12264. Epub 2017 Dec 22.

Authors

Asmat Ullah¹, Maryam Khalid², Muhammad Umair¹, Sher Alam Khan³, Muhammad Bilal¹, Saadullah Khan³, Wasim Ahmad¹

Affiliations

¹ Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
² Department of Biotechnology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
³ Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Pakistan.

PMID: 29232001
DOI: 10.1111/cga.12264

No abstract available

MeSH terms

Bardet-Biedl Syndrome / diagnosis
Bardet-Biedl Syndrome / genetics*
Bardet-Biedl Syndrome / pathology
Base Sequence
Biological Variation, Population*
Chromosomes, Human, Pair 20 / chemistry*
Consanguinity
Female
Gene Expression
Group II Chaperonins / genetics*
Homozygote
Humans
Male
Mutation*
Pakistan
Pedigree
Phenotype
Protein Domains

Substances

MKKS protein, human
Group II Chaperonins