Hereditary coproporphyria: Comparison of molecular and biochemical investigations in a large family

Journal of Inherited Metabolic Disease

Volumn 28, Issue 5, 2005, Pages 779-785

  Allen, Keith R ^a   Whatley, S D ^b   Degg, T J ^a   Barth, J H ^a  

^a LEEDS TEACHING HOSPITALS NHS TRUST   (United Kingdom)

^b UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COPROPORPHYRIN; DNA; PORPHYRIN;

ACUTE INTERMITTENT PORPHYRIA; ADOLESCENT; ADULT; AGE DISTRIBUTION; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BIOASSAY; CLINICAL ARTICLE; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; COPROPORPHYRIA; DNA SEQUENCE; FECES LEVEL; FEMALE; FLUORESCENCE ANALYSIS; FRAMESHIFT MUTATION; GENE DELETION; HUMAN; MALE; METABOLITE; MOLECULAR BIOLOGY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PROTEIN BLOOD LEVEL; SCHOOL CHILD; SENSITIVITY ANALYSIS; SYMPTOMATOLOGY; URINARY EXCRETION;

ADOLESCENT; ADULT; AGED; CHILD; COPROPORPHYRIA, HEREDITARY; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FECES; FEMALE; FRAMESHIFT MUTATION; HEME; HUMANS; INFANT, NEWBORN; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PORPHYRINS; SEQUENCE ANALYSIS, DNA;

EID: 25144479909     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-005-0092-z     Document Type: Article

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