Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family.
Elsayed, Liena E O
Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family. [electronic resource] - BMC medical genetics 05 2018 - 72 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1471-2350
10.1186/s12881-018-0592-y doi
Child, Preschool
Female
Genetic Association Studies
Genetic Predisposition to Disease
Group VI Phospholipases A2--genetics
Homozygote
Humans
Infant
Male
Mutation
Neuroaxonal Dystrophies--genetics
RNA Splice Sites
Siblings
Sudan
Exome Sequencing--methods
Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family. [electronic resource] - BMC medical genetics 05 2018 - 72 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1471-2350
10.1186/s12881-018-0592-y doi
Child, Preschool
Female
Genetic Association Studies
Genetic Predisposition to Disease
Group VI Phospholipases A2--genetics
Homozygote
Humans
Infant
Male
Mutation
Neuroaxonal Dystrophies--genetics
RNA Splice Sites
Siblings
Sudan
Exome Sequencing--methods