Functional consequences of seven novel mutations in the CYP11B1 gene: Four mutations associated with nonclassic and three mutations causing classic 11β-hydroxylase deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 2, 2010, Pages 779-788

  Parajes, Silvia ^a,b   Loidi, Lourdes ^b   Reisch, Nicole ^a   Dhir, Vivek ^a   Rose, Ian T ^a   Hampel, Rainer ^c   Quinkler, Marcus ^h   Conway, Gerard S ^e   Castro Feijóo, Lidia ^d   Araujo Vilar, David ^d   Pombo, Manuel ^d   Dominguez, Fernando ^b   Williams, Emma L ^e   Cole, Trevor R ^g   Kirk, Jeremy M ^f   Kaminsky, Elke ⁱ   Rumsby, Gill ^e   Arlt, Wiebke ^a   Krone, Nils ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b Unidad de Medicina Molecular   (Spain)

^c ROSTOCK UNIVERSITY MEDICAL CENTER   (Germany)

^d HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^e UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

^f BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^g BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^h CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

ⁱ Praxis fur Humangenetik   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

STEROID 11BETA MONOOXYGENASE;

ADULT; ARTICLE; CASE REPORT; CELL STRAIN COS7; CONGENITAL ADRENAL HYPERPLASIA; CYP11B1 GENE; ENZYME ACTIVITY; GENE; GENE EXPRESSION SYSTEM; GENE MUTATION; GENETIC COUNSELING; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; IN VITRO STUDY; INCIDENCE; MALE; MUTANT; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RARE DISEASE; STEROID 11BETA MONOOXYGENASE DEFICIENCY; WILD TYPE;

EID: 76149126092     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-0651     Document Type: Article

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