Genotype-phenotype correlation in primary carnitine deficiency

Human Mutation

Volumn 33, Issue 1, 2012, Pages 118-123

  Rose, Emily C ^a   di San Filippo, Cristina Amat ^a   Ndukwe Erlingsson, Uzochi C ^a   Ardon, Orly ^a,b   Pasquali, Marzia ^a,b   Longo, Nicola ^a,b  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b ARUP LABORATORIES   (United States)

Author keywords

Carnitine deficiency; OCTN2; SLC22A5

Indexed keywords

CARNITINE; DNA; ORGANIC CATION TRANSPORTER; ORGANIC CATION TRANSPORTER 1; ORGANIC CATION TRANSPORTER 5; THIONEINE; UNCLASSIFIED DRUG;

AMINO ACID TRANSPORT; ARTICLE; CARNITINE DEFICIENCY; CHO CELL; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; FIBROBLAST; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIMARY CARNITINE DEFICIENCY; PRIORITY JOURNAL;

ADULT; ANIMALS; ASYMPTOMATIC DISEASES; BIOLOGICAL TRANSPORT; CARDIOMYOPATHIES; CARNITINE; CHILD; CHILD, PRESCHOOL; CHO CELLS; CODON, NONSENSE; CRICETINAE; CRICETULUS; DNA MUTATIONAL ANALYSIS; ERGOTHIONEINE; EXONS; FEMALE; FIBROBLASTS; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; HYPERAMMONEMIA; INFANT; MUSCULAR DISEASES; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; ORGANIC CATION TRANSPORT PROTEINS; PHENOTYPE;

CRICETULUS GRISEUS;

EID: 84857689250     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21607     Document Type: Article

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