A large deletion on chromosome 11 in acute intermittent porphyria

Blood Cells, Molecules, and Diseases

Volumn 37, Issue 1, 2006, Pages 50-54

  Di Pierro, Elena ^a   Besana, Valeria ^a   Moriondo, Valeria ^a   Brancaleoni, Valentina ^a   Tavazzi, Dario ^a   Casalgrandi, Giovanna ^b   Ventura, Paolo ^b   Rocchi, Emilio ^b   Cappellini, Maria Domenica ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

Acute intermittent porphyria; Chromosome 11; Gene rearrangement; Heme

Indexed keywords

DOLICHOL PHOSPHATE; HISTONE H2A; N ACETYLGLUCOSAMINE; PHOSPHOTRANSFERASE; PORPHOBILINOGEN DEAMINASE;

ARTICLE; CASE REPORT; CHROMOSOME 11; CHROMOSOME DELETION; CHROMOSOME INVERSION; DNA FLANKING REGION; FEMALE; GENE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC POLYMORPHISM; HOMOZYGOSITY; HUMAN; HYDROXYMETHYLBILANE SYNTHASE GENE; MALE; NUCLEOTIDE SEQUENCE; PORPHYRIA; PRIORITY JOURNAL; PROTEIN TARGETING; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SYMPTOM;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; HISTONES; HOMOZYGOTE; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; INHERITANCE PATTERNS; ITALY; N-ACETYLGLUCOSAMINYLTRANSFERASES; POLYMORPHISM, GENETIC; PORPHYRIA, ACUTE INTERMITTENT;

EID: 33745952646     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2006.05.003     Document Type: Article

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