- A novel mutation in GJC2 associated with hypomyelinating leukodystrophy type 2 disorder
-
Komachali SR, Sheikholeslami M, Salehi M
- KMID: 2531739
- Genomics Inform.
- 2022 Jun;20(2):e24.
- doi: 10.5808/gi.22008
Hypomyelinating leukodystrophy type 2 (HLD2), is an inherited genetic disease of the central nervous system caused by recessive mutations in the gap junction protein gamma 2 (GJC2/GJA12). HLD2 is characterized... -
- CITED
-
- Close
- SHARE
-
- Close
- Two novel mutations in ALDH18A1 and SPG11 gene found by whole-exome sequencing in spastic paraplegia disease patients in Iran
-
Komachali SR, Siahpoosh Z, Salehi M
- KMID: 2535365
- Genomics Inform.
- 2022 Sep;20(3):e30.
- doi: 10.5808/gi.22030
Hereditary spastic paraplegia is a not common inherited neurological disorder with heterogeneous clinical expressions. ALDH18A1 (located on 10q24.1) gene-related spastic paraplegias (SPG9A and SPG9B) are rare metabolic disorders caused by... -
- CITED
-
- Close
- SHARE
-
- Close
