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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