scholarly journals Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report

2018 ◽  
Vol 19 (1) ◽  
Author(s):  
Zhimei Guo ◽  
Fang Liu ◽  
Hai Jun Li
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Congenital Hydrocephalus ◽  
Kabuki Syndrome ◽  
Site Mutation

Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review

2018 ◽  
Vol 45 (5) ◽  
pp. 613-617 ◽  
Author(s):  
Yukari Mizukami ◽  
Ryota Hayashi ◽  
Daisuke Tsuruta ◽  
Yutaka Shimomura ◽  
Koji Sugawara
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Woolly Hair

scholarly journals Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report

2018 ◽  
Vol 18 (1) ◽  
Author(s):  
Karin E. Lundin ◽  
Qing Wang ◽  
Abdulrahman Hamasy ◽  
Per Marits ◽  
Mehmet Uzunel ◽  
...  
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation

scholarly journals Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family

2018 ◽  
Vol 19 (1) ◽  
Author(s):  
Liena E. O. Elsayed ◽  
Inaam N. Mohammed ◽  
Ahlam A. A. Hamed ◽  
Maha A. Elseed ◽  
Mustafa A. M. Salih ◽  
...  
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Neuroaxonal Dystrophy ◽  
Site Mutation ◽  
Infantile Neuroaxonal Dystrophy

scholarly journals A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report

2018 ◽  
Vol 19 (1) ◽  
Author(s):  
Hossein Esmaeilzadeh ◽  
Mohammad Reza Bordbar ◽  
Hassan Dastsooz ◽  
Mohammad Silawi ◽  
Mohammad Ali Farazi Fard ◽  
...  
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Chronic Colitis ◽  
Site Mutation ◽  
Wiskott Aldrich Syndrome ◽  
Was Gene

scholarly journals Correction to: Clinical and experimental phenotype of azole-resistant Aspergillus fumigatus with a HapE splice site mutation: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yuya Ito ◽  
Takahiro Takazono ◽  
Satoru Koga ◽  
Yuichiro Nakano ◽  
Nobuyuki Ashizawa ◽  
...  
Keyword(s):  
Case Report ◽  
Aspergillus Fumigatus ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation

scholarly journals A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature

2016 ◽  
Vol 7 (1) ◽  
pp. 26-31 ◽  
Author(s):  
Linda K. Rey ◽  
Jürgen Kohlhase ◽  
Katrin Möllenhoff ◽  
Gabriele Dekomien ◽  
Jörg T. Epplen ◽  
...  
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Review Of The Literature ◽  
Site Mutation ◽  
Lipoid Proteinosis

Analysis of the Alternative Splicing of an FGFR2 Transcript Due to a Novel 5′ Splice Site Mutation (1084+1G>A): Case Report

2012 ◽  
Vol 49 (1) ◽  
pp. 104-108 ◽  
Author(s):  
Ilana Traynis ◽  
Jonathan A. Bernstein ◽  
Phyllis Gardner ◽  
Iris Schrijver
Keyword(s):  
Case Report ◽  
Alternative Splicing ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation
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