A novel in-frame mutation in
Sher, Muhammad
A novel in-frame mutation in [electronic resource] - The International journal of neuroscience Sep 2019 - 890-895 p. digital
Publication Type: Case Reports; Journal Article
1563-5279
10.1080/00207454.2019.1586686 doi
Adolescent
Humans
Male
Membrane Glycoproteins--genetics
Molecular Chaperones--genetics
Mutation--genetics
Neuronal Ceroid-Lipofuscinoses--diagnostic imaging
Pakistan
Pedigree
A novel in-frame mutation in [electronic resource] - The International journal of neuroscience Sep 2019 - 890-895 p. digital
Publication Type: Case Reports; Journal Article
1563-5279
10.1080/00207454.2019.1586686 doi
Adolescent
Humans
Male
Membrane Glycoproteins--genetics
Molecular Chaperones--genetics
Mutation--genetics
Neuronal Ceroid-Lipofuscinoses--diagnostic imaging
Pakistan
Pedigree