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Volumn 15, Issue 1, 2014, Pages

Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency

Author keywords

Ataxia; CNV; Copy number variants; D bifunctional protein deficiency; DBP; Exome sequencing; HSD17B4; Human genetics; Mendelian disorders; Mitochondria; Mitochondrial disease; Mitochondrial disorders; Multi system disorders; Next generation sequencing; Peroxisomal defects; Perrault syndrome

Indexed keywords

CITRATE SYNTHASE; DOCOSAHEXAENOIC ACID; FOLLITROPIN; HSD17B4 PROTEIN; LACTIC ACID; MITOCHONDRIAL DNA; PEROXISOMAL BIFUNCTIONAL ENZYME; PHYTANIC ACID; TESTOSTERONE; UBIDECARENONE; UNCLASSIFIED DRUG; VERY LONG CHAIN FATTY ACID; ACYLCARNITINE; ARACHIDONIC ACID; CARBOXYLIC ACID; CARNITINE; LONG CHAIN FATTY ACID; HSD17B4 PROTEIN, HUMAN; PEROXISOMAL MULTIFUNCTIONAL PROTEIN 2;

EID: 84899475824     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-15-30     Document Type: Article
Times cited : (38)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.