An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency

Journal of Inherited Metabolic Disease

Volumn 32, Issue 4, 2009, Pages 560-569

  Arenas, M ^a   Fairbanks, L D ^a   Vijayakumar, K ^b   Carr, L ^b   Escuredo, E ^a   Marinaki, A M ^a  

^a ST THOMAS HOSPITAL   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CYTOSINE; GENE PRODUCT; GENOMIC DNA; MESSENGER RNA; PROTEIN MOCS1; THYMINE; UNCLASSIFIED DRUG;

ALTERNATIVE RNA SPLICING; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; DNA SEQUENCE; ENZYME DEFICIENCY; EXON; FEMALE; GENE ACTIVITY; GENE AMPLIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; INTRON; LEUKOCYTE; METABOLIC DISORDER; MOLYBDENUM COFACTOR DEFICIENCY; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; SCHOOL CHILD;

ALTERNATIVE SPLICING; BASE SEQUENCE; CHILD; COENZYMES; DNA MUTATIONAL ANALYSIS; EXONS; HUMANS; MALE; METABOLISM, INBORN ERRORS; METALLOPROTEINS; MODELS, BIOLOGICAL; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; POLYMORPHISM, GENETIC; PTERIDINES;

EID: 69449101366     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1151-7     Document Type: Article

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