Characterization of novel StAR (Steroidogenic Acute Regulatory Protein) mutations causing non-classic lipoid adrenal hyperplasia

PLoS ONE

Volumn 6, Issue 5, 2011, Pages

  Flück, Christa E ^a   Pandey, Amit V ^a   Dick, Bernhard ^b   Camats, Núria ^c   Fernández Cancio, Mónica ^c   Clemente, María ^c   Gussinyé, Miquel ^c   Carrascosa, Antonio ^c   Mullis, Primus E ^a   Audi, Laura ^c  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF BERN   (Switzerland)

^c UNIVERSITY OF BARCELONA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

FLUDROCORTISONE; HYDROCORTISONE; STEROIDOGENIC ACUTE REGULATORY PROTEIN; CHOLESTEROL; GLUCOCORTICOID; MELANOCORTIN 2 RECEPTOR; MUTANT PROTEIN; PHOSPHOPROTEIN;

ADOLESCENT; ADRENAL INSUFFICIENCY; ADULT; ARTICLE; CASE REPORT; CHILD; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HUMAN CELL; HYPERGONADOTROPIC HYPOGONADISM; INFANT; KARYOTYPE 46,XX; KARYOTYPE 46,XY; LOSS OF FUNCTION MUTATION; MALE; NON CLASSIC CONGENITAL ADRENAL HYPERPLASIA; PHENOTYPE; PRESCHOOL CHILD; PROTEIN FUNCTION; PROTEIN STRUCTURE; SPAIN; STAR GENE; SWITZERLAND; AMINO ACID SEQUENCE; ANIMAL; CHEMICAL STRUCTURE; CHEMISTRY; GENETICS; HOMOZYGOTE; METABOLISM; MOLECULAR GENETICS; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PREGNANCY; PROTEIN CONFORMATION; SEX DIFFERENTIATION DISORDER; SIBLING;

46, XY DISORDERS OF SEX DEVELOPMENT; ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; ADULT; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHILD; CHOLESTEROL; FEMALE; GLUCOCORTICOIDS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; PHOSPHOPROTEINS; PREGNANCY; PROTEIN CONFORMATION; RECEPTOR, MELANOCORTIN, TYPE 2; SIBLINGS;

EID: 79957611314     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0020178     Document Type: Article

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