Feline congenital erythropoietic porphyria: Two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation

Molecular Medicine

Volumn 16, Issue 9-10, 2010, Pages 381-388

  Clavero, Sonia ^a   Bishop, David F ^a   Giger, Urs ^b   Haskins, Mark E ^b   Desnick, Robert J ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE; AMINO ACID; AMINOLEVULINIC ACID; GUANOSINE; POLYPEPTIDE; PORPHOBILINOGEN; PORPHOBILINOGEN DEAMINASE; PORPHYRIN; UROPORPHYRINOGEN III SYNTHASE;

ACUTE INTERMITTENT PORPHYRIA; ADULT ANIMAL; AMINO ACID SUBSTITUTION; ARTICLE; CAT; CONGENITAL ERYTHROPOIETIC PORPHYRIA; CONTROLLED STUDY; DOMESTIC ANIMAL; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME STABILITY; EXON; GENE SEQUENCE; HOMOZYGOSITY; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MOLECULAR MODEL; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN URINE LEVEL; SEQUENCE ANALYSIS; THERMOSTABILITY; WILD TYPE;

ANIMALS; CAT DISEASES; CATS; ERYTHROCYTES; HOMOZYGOTE; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION, MISSENSE; PORPHYRIA, ERYTHROPOIETIC; PORPHYRINS; UROPORPHYRINOGEN III SYNTHETASE;

EID: 77956643097     PISSN: 10761551     EISSN: None     Source Type: Journal    
DOI: 10.2119/molmed.2010.00038     Document Type: Article

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