Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: Identification of 25 novel mutations

Human Genetics

Volumn 104, Issue 6, 1999, Pages 505-510

  Whatley, Sharon D ^a   Woolf, Jackie R ^a   Elder, George H ^a  

^a UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; PORPHOBILINOGEN DEAMINASE;

ACUTE INTERMITTENT PORPHYRIA; ARTICLE; AUTOANALYSIS; AUTOSOMAL DOMINANT DISORDER; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; ENHANCER REGION; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; INTRON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATION RATE; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0032801875     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050995     Document Type: Article

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