A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain.
Pastore, Stephen
A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain. [electronic resource] - Journal of human genetics May 2020 - 493-496 p. digital
Publication Type: Case Reports; Clinical Trial; Journal Article
1435-232X
10.1038/s10038-020-0734-x doi
Adult
Alleles
Family
Hereditary Sensory and Autonomic Neuropathies--genetics
Humans
Male
Mutagenesis, Insertional
Pain Insensitivity, Congenital--genetics
Pakistan
WNK Lysine-Deficient Protein Kinase 1--genetics
A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain. [electronic resource] - Journal of human genetics May 2020 - 493-496 p. digital
Publication Type: Case Reports; Clinical Trial; Journal Article
1435-232X
10.1038/s10038-020-0734-x doi
Adult
Alleles
Family
Hereditary Sensory and Autonomic Neuropathies--genetics
Humans
Male
Mutagenesis, Insertional
Pain Insensitivity, Congenital--genetics
Pakistan
WNK Lysine-Deficient Protein Kinase 1--genetics