Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients

PLoS ONE

Volumn 6, Issue 1, 2011, Pages

  Minutolo, Carolina ^a,b   Nadra, Alejandro D ^b   Fernández, Cecilia ^a,c   Taboas, Melisa ^a   Buzzalino, Noemí ^a   Casali, Bárbara ^a,e   Belli, Susana ^d   Charreau, Eduardo H ^c   Alba, Liliana ^a   Dain, Liliana ^a,c  

^a Administracion Nacional de Laboratorios E Institutos de Salud Dr Carlos G Malbran   (Argentina)

^b UNIVERSIDAD DE BUENOS AIRES   (Argentina)

^c Facultad de Ciencias Naturales e Instituto M Lillo   (Argentina)

^d HOSPITAL DURAND   (Argentina)

^e HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 2C; CYTOCHROME P450 2C21; STEROID 21 MONOOXYGENASE; UNCLASSIFIED DRUG; CYP21A2 PROTEIN, HUMAN;

ARTICLE; CHROMOSOME 6P; CONGENITAL ADRENAL HYPERPLASIA; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENOTYPE; HETEROZYGOTE DETECTION; HUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; PROMOTER REGION; PROTEIN STABILITY; PROTEIN STRUCTURE; PSEUDOGENE; SALT WASTING; SEQUENCE ANALYSIS; STEROID 21 MONOOXYGENASE DEFICIENCY; STRUCTURE ANALYSIS; ALGORITHM; ARGENTINA; CASE CONTROL STUDY; CHEMICAL STRUCTURE; CHEMISTRY; GENETIC PREDISPOSITION; GENETICS; MUTATION;

MAMMALIA;

ADRENAL HYPERPLASIA, CONGENITAL; ALGORITHMS; ARGENTINA; CASE-CONTROL STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MODELS, MOLECULAR; MUTATION; PROTEIN STABILITY; STEROID 21-HYDROXYLASE;

EID: 79251568943     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0015899     Document Type: Article

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