HMBS mutations in chinese patients with acute intermittent porphyria

Annals of Human Genetics

Volumn 72, Issue 5, 2008, Pages 683-686

  Yang, C C ^a   Kuo, H C ^a   You, H L ^b   Wang, J ^b   Huang, C C ^a   Liu, C Y ^c   Lan, M Y ^b   Stephenson, D A ^d   Lee, Ming Jen ^a,b  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^c TAOYUAN GENERAL HOSPITAL   (Taiwan)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Acute intermittent porphyria; Chinese; HMBS; Mutations

Indexed keywords

ARGININE; ASPARAGINE; DRUG; GLYCINE; HEME; HORMONE; PORPHOBILINOGEN DEAMINASE; PROLINE;

ABDOMINAL PAIN; ACUTE INTERMITTENT PORPHYRIA; ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DIET RESTRICTION; DISEASE ASSOCIATION; ENZYME DEFICIENCY; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC DISORDER; HEME SYNTHESIS; HUMAN; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PARESIS; PHENOTYPE; PRIORITY JOURNAL; RECURRENT DISEASE; TAIWAN; URINE COLOR;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; MALE; MUTATION; PORPHYRIA, ACUTE INTERMITTENT; TAIWAN;

EID: 49449091689     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2008.00463.x     Document Type: Article

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