| Literature DB >> 31830914 |
Amjad Khan1,2,3,4, Rongrong Wang1, Shirui Han2, Muhammad Umair5, Safdar Abbas4, Muhammad Ismail Khan6, Mohammad A Alshabeeb3, Majid Alfadheland5, Xue Zhang7,8.
Abstract
Please be advised that following publication of the original article [1], the authors have identified the following errors with the scientific content.Entities:
Year: 2019 PMID: 31830914 PMCID: PMC6907177 DOI: 10.1186/s12881-019-0929-1
Source DB: PubMed Journal: BMC Med Genet ISSN: 1471-2350 Impact factor: 2.103
Fig. 1a A consanguineous pedigree showing two affected members (IV:3 and IV:5) in the fourth generation having limb girdle muscular dystrophy. Affected individuals in the pedigree are shown with shaded symbols and unaffected with open symbols. Double lines indicate consanguineous union. b Sequence chromatogram of the TTN gene is showing segregation of c.98807G > A; p. Arg32936His in all family members c Ribbon representation of three-dimensional structure of human titin with close-up view of mutant (right) and wild type (left) at position 32,936 showing the local conformation induced by the substitution of arginine by histidine. d Ramachandran plots of wild and mutant types. e Schematic view of the functional domain of the TTN gene and localization of known mutation (Arg32936His). The novel missense variant p. Arg32936His reported here is indicated in red localized in the FN3 domain 128, which is situated in the distal A-band region. f The panel also shows the evolutionary conservation of Arg32936 across different species