Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Sajad Rafiee komachali"'
Autor:
Sajad Rafiee Komachali, Zakieh Siahpoosh, Sara Rafiee Komachali, Dor Mohammad Kordi Tamandani, Mansoor Salehi
Publikováno v:
European Journal of Biological Research, Vol 12, Iss 4 (2022)
Propionic acidemia (PROP) is an autosomal recessive inherited metabolic deficiency caused by multimeric mitochondrial enzyme propionyl‐coenzyme A (CoA) carboxylase (PCC). PCC enzyme contains a and b subunits, encoded by the PCCA and PCCB genes that
Externí odkaz:
https://doaj.org/article/55e0668c5d1043a6986d70bb1c0f9351
Autor:
Sajad Rafiee Komachali, Khalil Khashei Varnamkhasti, Seyyed Reza Mousavi, Farzaneh Salimi, Mansoor Salehi
Publikováno v:
Advances in Bioscience and Clinical Medicine. 10:7-9
Background: Neuropathies a result of damage to the peripheral nerves are a heterogeneous group of diseases which may occur due to underlying genetic abnormalities. Exciting capabilities of the whole exome sequencing to detect disorders at the level o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::98c348bd8b64749569d33455b0b985e4
https://doi.org/10.7575/aiac.abcmed.v.10n.2p.7
https://doi.org/10.7575/aiac.abcmed.v.10n.2p.7
Publikováno v:
Human Gene. 36:201167
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d642bab350f5a4d7c9637617134c8d4b
https://doi.org/10.1016/j.humgen.2023.201167
https://doi.org/10.1016/j.humgen.2023.201167
Publikováno v:
Genomicsinformatics. 20(3)
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 dominant an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38416e4ea0109f43a2441bbddf8f6cac
https://pubmed.ncbi.nlm.nih.gov/36239107
https://pubmed.ncbi.nlm.nih.gov/36239107
Publikováno v:
Genomics & Informatics. 20:e24
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 by nystagmus, developmental delay, motor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad6be3d44d90ef82a6f67f4f1b57e02b
https://doi.org/10.5808/gi.22008
https://doi.org/10.5808/gi.22008
Publikováno v:
Gene Reports. 27:101598
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b296b2e7bca591acf0ac3156019b6f86
https://doi.org/10.1016/j.genrep.2022.101598
https://doi.org/10.1016/j.genrep.2022.101598