【問題】combined oxidative phosphorylation deficiency 20 ?推薦回答
關於「combined oxidative phosphorylation deficiency 20」標籤,搜尋引擎有相關的訊息討論:
combined oxidative phosphorylation deficiency 20; coxpd20 - OMIM。
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20; COXPD20 · Phenotype-Gene Relationships · ▽ TEXT · ▻ Clinical Features · ▻ Inheritance · ▻ Molecular Genetics.: 。
Combined oxidative phosphorylation deficiency 2(COXPD2) - NCBI。
Combined oxidative phosphorylation deficiency 2(COXPD2). MedGen UID: 400626; •Concept ID: C1864843; •: Disease or Syndrome ...。
Combined oxidative phosphorylation deficiency 20(COXPD20) - NCBI。
Combined oxidative phosphorylation deficiency 20(COXPD20). MedGen UID: 863097; •Concept ID: C4014660; •: Disease or Syndrome ...: 。
Nuclear genetic defects of oxidative phosphorylation。
A systematic evaluation of 20 patients with complex I deficiency for mutations in the cDNAs of 35 nuclear-encoded structural subunits has revealed mutations in ...。
Combined oxidative phosphorylation deficiency 1 - MedlinePlus。
Combined oxidative phosphorylation deficiency 1 is a severe condition that primarily impairs neurological and liver function. Explore symptoms, inheritance ...: 。
Early Onset of Combined Oxidative Phosphorylation Deficiency in Two。
2020年12月2日 · Prior research has indicated that a p32 mutation was the suspected cause of mitochondrial respiratory chain disorders (20). Four individuals ...: tw | tw。
Two Novel Pathogenic Variants Confirm RMND1 Causative Role in ...。
RMND1 (required for meiotic nuclear division 1 homolog) pathogenic variants are known to cause combined oxidative phosphorylation deficiency (COXPD11), ...。
(Leu275Phe) Mutation in the C1QBP Gene. - Europe PMC。
2020年12月2日 · Early Onset of Combined Oxidative Phosphorylation Deficiency in Two Chinese Brothers Caused by a Homozygous (Leu275Phe) Mutation in the ...。
Preconception Carrier Screening by Genome Sequencing - Cell Press。
2018年5月10日 · protein interactions,20 microRNAs from miRbase,21 and popula- ... AARS2- COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, ABCA12- ICHTHYOSIS.。
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常見combined oxidative phosphorylation deficiency 20問答
延伸文章資訊vars2. ID: ZDB-GENE-060503-575; Name: valyl-tRNA synthetase 2, mitochondrial; Symbol: vars2 Nomen...
tissues with high or low expression of VARS2 gene relative to other tissues from the Allen Brain ...
Expression of VARS2 (DKFZP434L1435, G7a, KIAA1885, VARS2L, VARSL) in cancer tissue. The cancer ti...
Valyl-tRNA synthetase 2, mitochondrial is a protein that in humans is encoded by the VARS2 gene. ...
Valine--tRNA ligase, mitochondrial · VARS2 · <p>This section provides any useful information abou...
Among the 17 mitochondria-specific aminoacyl-tRNA synthases, VARS2 encodes the mitochondrial valy...
VARS2 mutation underlies a novel autosomal recessive syndrome with epilepsy, mental retardation, ...
vars2. ID: ZDB-GENE-060503-575; Name: valyl-tRNA synthetase 2, mitochondrial; Symbol: vars2 Nomen...
tissues with high or low expression of VARS2 gene relative to other tissues from the Allen Brain ...
Expression of VARS2 (DKFZP434L1435, G7a, KIAA1885, VARS2L, VARSL) in cancer tissue. The cancer ti...
Valyl-tRNA synthetase 2, mitochondrial is a protein that in humans is encoded by the VARS2 gene. ...
Valine--tRNA ligase, mitochondrial · VARS2 · <p>This section provides any useful information abou...
Among the 17 mitochondria-specific aminoacyl-tRNA synthases, VARS2 encodes the mitochondrial valy...
VARS2 mutation underlies a novel autosomal recessive syndrome with epilepsy, mental retardation, ...