Multiplex ligation-dependent probe amplification: A novel approach for genetic diagnosis of Porphyria

Journal of Human Genetics

Volumn 54, Issue 8, 2009, Pages 479-487

  Di Pierro, Elena ^a   Brancaleoni, Valentina ^a   Besana, Valeria ^a   Cappellini, Maria Domenica ^a  

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

Deletion; MLPA; Porphyria

Indexed keywords

HEME;

ARTICLE; CHROMOSOME ANALYSIS; CONTROLLED STUDY; DNA FLANKING REGION; DNA PROBE; GENE DELETION; GENE MUTATION; GENE PROBE; GENE REARRANGEMENT; GENE SEQUENCE; HUMAN; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PORPHYRIA; REPRODUCIBILITY; SINGLE NUCLEOTIDE POLYMORPHISM;

DNA PROBES; HEME; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PORPHYRIAS;

EID: 69349092674     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2009.67     Document Type: Article

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