A novel 19-bp deletion of exon 15 in the HMBS gene causing acute intermittent porphyria associating with rhabdomyolysis during an acute attack

Clinical Genetics

Volumn 74, Issue 4, 2008, Pages 396-398

  Yrjonen A ^a   Pischik, E ^a,b   Mehtala S ^a   Kauppinen, Raili ^a,c  

^a HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^b PAVLOV FIRST SAINT PETERSBURG STATE MEDICAL UNIVERSITY   (Russian Federation)

^c Biomedicum Helsinki   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

CODEINE; CREATINE KINASE; MYOGLOBIN; PARACETAMOL; PORPHOBILINOGEN DEAMINASE; SODIUM;

ABDOMINAL PAIN; ACUTE INTERMITTENT PORPHYRIA; ADULT; BLEEDING; CASE REPORT; CONFUSION; CONTROLLED STUDY; DISEASE ACTIVITY; DISEASE ASSOCIATION; DYSERYTHROPOIESIS; EXON; FAMILY HISTORY; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HUMAN; HYPOKALEMIA; HYPONATREMIA; LETTER; MYALGIA; POLYNEUROPATHY; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; RHABDOMYOLYSIS; RISK FACTOR; SERUM OSMOLALITY; SODIUM EXCRETION; SPONTANEOUS ABORTION; URINE OSMOLALITY;

ADULT; EXONS; FEMALE; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; PORPHYRIA, ACUTE INTERMITTENT; RHABDOMYOLYSIS; SEQUENCE DELETION;

EID: 52449101158     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01061.x     Document Type: Letter

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