Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency

American Journal of Medical Genetics

Volumn 136 A, Issue 2, 2005, Pages 205-209

  Seidahmed, M Z ^a   Alyamani, E A ^b   Rashed, M S ^b   Saadallah, A A ^b   Abdelbasit, O B ^a   Shaheed, M M ^a   Rasheed, A ^a   Hamid, F A ^a   Sabry, M A ^b,c  

^a SECURITY FORCES HOSPITAL   (Saudi Arabia)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c ARABIAN GULF UNIVERSITY   (Bahrain)

Author keywords

Arab mutation; Heme binding domain; Hypoxic ischemic encephalopathy; Intractable seizures; Isolated sulfite oxidase deficiency; Molybdo pterin domain

Indexed keywords

AMINO ACID; GENE PRODUCT; HYPOXANTHINE; MOLYBDOPTERIN; PROTEIN SUOX; UNCLASSIFIED DRUG; URIC ACID; XANTHENE;

ALLELE; ARAB; ARTICLE; BRAIN HYPOXIA; BRAIN ISCHEMIA; CASE REPORT; CONSANGUINEOUS MARRIAGE; DIMERIZATION; ENZYME DEFICIENCY; FACE DYSMORPHIA; FRAMESHIFT MUTATION; GENE DELETION; GENETIC ANALYSIS; HUMAN; INTRACTABLE EPILEPSY; MALE; NEURORADIOLOGY; PHENOTYPE; PREGNANCY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; STOP CODON; URIC ACID BLOOD LEVEL;

ABNORMALITIES, MULTIPLE; ARABS; BASE SEQUENCE; BINDING SITES; COENZYMES; CONSANGUINITY; DIMERIZATION; DNA; DNA MUTATIONAL ANALYSIS; EAR; FAMILY HEALTH; FRAMESHIFT MUTATION; HUMANS; INFANT; MALE; METALLOPROTEINS; MICROCEPHALY; MUTATION; ORGANOMETALLIC COMPOUNDS; OXIDOREDUCTASES ACTING ON SULFUR GROUP DONORS; PROTEINS; PTERIDINES; SEIZURES; SEQUENCE DELETION;

EID: 22044449041     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30796     Document Type: Article

References (22)

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