CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency

PLoS ONE

Volumn 6, Issue 9, 2011, Pages

  Hwang, Daw Yang ^a   Hung, Chi Chih ^a   Riepe, Felix G ^b   Auchus, Richard J ^c   Kulle, Alexandra E ^b   Holterhus, Paul Martin ^b   Chao, Mei Chyn ^a,d   Kuo, Mei Chuan ^a,d   Hwang, Shang Jyh ^a,d   Chen, Hung Chun ^a,d  

^a KAOHSIUNG MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^b UNIVERSITY OF KIEL   (Germany)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^d KAOHSIUNG MEDICAL UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOSTERONE; CORTICOTROPIN; CORTISONE; DEOXYCORTICOSTERONE; ESTRADIOL; HYDROCORTISONE; HYDROXYPROGESTERONE; PRASTERONE SULFATE; PREDNISOLONE; RENIN; STEROID 17ALPHA MONOOXYGENASE; CYP17A1 PROTEIN, HUMAN;

17ALPHA HYDROXYLASE DEFICIENCY; ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; BLOOD PRESSURE MEASUREMENT; CASE REPORT; CYP17A1 GENE; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXPRESSION VECTOR; FEMALE; GENE; GENE MUTATION; HORMONE BLOOD LEVEL; HUMAN; HYPERTENSION; HYPOKALEMIA; INTRON; LYMPHOBLASTOID CELL LINE; NUCLEOTIDE SEQUENCE; PROTEINURIA; REAL TIME POLYMERASE CHAIN REACTION; RIBOSOMAL FRAMESHIFTING; RNA SEQUENCE; SPLICING DEFECT; TRANSIENT TRANSFECTION; TREATMENT DURATION; ADOLESCENT; ANIMAL; CELL LINE; CELL STRAIN COS1; CERCOPITHECUS; GENETICS; METABOLISM; MUTATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; WESTERN BLOTTING;

HUMAN HERPESVIRUS 4;

ADOLESCENT; ANIMALS; BLOTTING, WESTERN; CELL LINE; CERCOPITHECUS AETHIOPS; COS CELLS; FEMALE; HUMANS; INTRONS; MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; STEROID 17-ALPHA-HYDROXYLASE;

EID: 80053164262     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0025492     Document Type: Article

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