Ontology highlight
ABSTRACT:
SUBMITTER: Monies D
PROVIDER: S-EPMC5674688 | biostudies-literature | 2017 Nov
REPOSITORIES: biostudies-literature
Monies Dorota D Abou Al-Shaar Hussam H Goljan Ewa A EA Al-Younes Banan B Al-Breacan Muna Monther Abdullah MMA Al-Saif Maher Mohammed MM Wakil Salma M SM Meyer Brian F BF Khabar Khalid S A KSA Bohlega Saeed S
Human genomics 20171106 1
<h4>Background</h4>Five affected individuals with syndromic tremulous dystonia, spasticity, and white matter disease from a consanguineous extended family covering a period of over 24 years are presented. A positional cloning approach utilizing genome-wide linkage, homozygozity mapping and whole exome sequencing was used for genetic characterization. The impact of a calmodulin-binding transcription activator 2, (CAMTA2) isoform 2, hypomorphic mutation on mRNA and protein abundance was studied us ...[more]