TY  - GEN
AU  - Sher,Muhammad
AU  - Farooq,Muhammad
AU  - Abdullah,Uzma
AU  - Ali,Zafar
AU  - Faryal,Sanam
AU  - Zakaria,Mohammad
AU  - Ullah,Farid
AU  - Bukhari,Hassan
AU  - Møller,Rikke S
AU  - Tommerup,Niels
AU  - Baig,Shahid Mahmood
TI  - A novel in-frame mutation in 
SN  - 1563-5279
PY  - 2020///0106
KW  - Adolescent
KW  - Humans
KW  - Male
KW  - Membrane Glycoproteins
KW  - genetics
KW  - Molecular Chaperones
KW  - Mutation
KW  - Neuronal Ceroid-Lipofuscinoses
KW  - diagnostic imaging
KW  - Pakistan
KW  - Pedigree
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1080/00207454.2019.1586686
ER  -