Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria

Annals of Human Genetics

Volumn 68, Issue 5, 2004, Pages 509-514

  Guillén Navarro, Encara ^a   Carbonell, P ^b   Glover, G ^b   Sanchez Solis M ^a   Fernandez Barreiro A ^c  

^a Servicio de Pediatría del Hospital   (Spain)

^b Centro Bioquimica y Genetica Clinica   (Spain)

^c HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

Author keywords

Acute intermittent porphyria; AIP; Founder mutation; HMBS; Hydroxymethylbilane synthase; PBGD; Polymorphism; Porphobilinogen deaminase; Spanish AIP patients

Indexed keywords

AMINOLEVULINIC ACID; DNA; PORPHOBILINOGEN; PORPHOBILINOGEN DEAMINASE;

ACUTE INTERMITTENT PORPHYRIA; ADULT; AGED; ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ERROR; DNA SEQUENCE; EXON; FEMALE; FOUNDER EFFECT; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HAPLOTYPE; HETEROZYGOTE DETECTION; HOMOZYGOSITY; HUMAN; INTRON; MALE; PRIORITY JOURNAL; SPAIN;

ADULT; AGED; DNA MUTATIONAL ANALYSIS; FEMALE; FOUNDER EFFECT; HAPLOTYPES; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; MALE; MIDDLE AGED; PEDIGREE; POLYMORPHISM, GENETIC; PORPHYRIA, ACUTE INTERMITTENT; SPAIN;

EID: 6444242831     PISSN: 00034800     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1529-8817.2003.00114.x     Document Type: Article

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