Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency

European Journal of Medical Genetics

Volumn 57, Issue 10, 2014, Pages 571-575

  Han, Lianshu ^a   Wang, Fei ^b   Wang, Yu ^a   Ye, Jun ^a   Qiu, Wenjuan ^a   Zhang, Huiwen ^a   Gao, Xiaolan ^a   Gong, Zhuwen ^a   Gu, Xuefan ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b SHANGHAI JIAO TONG UNIVERSITY   (China)

Author keywords

Carnitine transporter; Free carnitine; Gene mutation; SLC22A5; Systemic primary carnitine deficiency

Indexed keywords

CARNITINE; ORGANIC CATION TRANSPORTER 2; ORGANIC CATION TRANSPORTER; SLC22A5 PROTEIN, HUMAN;

ALLELE; ARTICLE; CARDIOMYOPATHY; CARNITINE DEFICIENCY; CHILD; CHINESE; CLINICAL ARTICLE; CONGESTIVE CARDIOMYOPATHY; DISEASE SEVERITY; EXON; FOUNDER EFFECT; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HEPATIC ENCEPHALOPATHY; HOMOZYGOSITY; HUMAN; INFANT; INTRON; MISSENSE MUTATION; MUSCLE WEAKNESS; MUTATOR GENE; NUCLEOTIDE SEQUENCE; PHENOTYPE; SLC22A5 GENE; SYMPTOMATOLOGY; SYSTEMIC PRIMARY CARNITINE DEFICIENCY; ASIAN CONTINENTAL ANCESTRY GROUP; BLOOD; CARDIOMYOPATHIES; DEFICIENCY; GENETICS; HYPERAMMONEMIA; MUSCULAR DISEASES; MUTATION; NEWBORN; NEWBORN SCREENING; PRESCHOOL CHILD;

ASIAN CONTINENTAL ANCESTRY GROUP; CARDIOMYOPATHIES; CARNITINE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; GENOTYPE; HUMANS; HYPERAMMONEMIA; INFANT; INFANT, NEWBORN; INTRONS; MUSCULAR DISEASES; MUTATION; MUTATION, MISSENSE; NEONATAL SCREENING; ORGANIC CATION TRANSPORT PROTEINS; PHENOTYPE;

EID: 84908156943     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.08.001     Document Type: Article

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