A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form

BMC Medical Genetics

Volumn 10, Issue , 2009, Pages

  Concolino, Paola ^a   Mello, Enrica ^a   Minucci, Angelo ^a   Giardina, Emiliano ^c   Zuppi, Cecilia ^a   Toscano, Vincenzo ^b   Capoluongo, Ettore ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYTOCHROME P450 21A1P; CYTOCHROME P450 21A2; GUANINE; STEROID 21 MONOOXYGENASE; UNCLASSIFIED DRUG; CYP21A2 PROTEIN, HUMAN; HLA B ANTIGEN; HLA B15; HLA DR ANTIGEN; HLA DR13; HLA-B15; HLA-DR13;

ADULT; ARTICLE; CASE REPORT; CHIMERA; CONGENITAL ADRENAL HYPERPLASIA; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE IDENTIFICATION; GENE LOCATION; GENE SEQUENCE; GENETIC ASSOCIATION; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTRON; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PROMOTER REGION; PSEUDOGENE; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTHERN BLOTTING; ALLELE; CAUCASIAN; ENZYMOLOGY; GENETICS; ITALY; MUTATION; POLYMERASE CHAIN REACTION;

ADRENAL HYPERPLASIA, CONGENITAL; ADULT; ALLELES; BLOTTING, SOUTHERN; CHIMERA; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HAPLOTYPES; HLA-B ANTIGENS; HLA-DR ANTIGENS; HUMANS; INTRONS; ITALY; MUTATION; POLYMERASE CHAIN REACTION; PSEUDOGENES; STEROID 21-HYDROXYLASE;

EID: 68349098926     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-10-72     Document Type: Article

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