A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings

Journal of Clinical Endocrinology and Metabolism

Volumn 90, Issue 2, 2005, Pages 835-840

  Chen, Xin ^a   Baker, Bo Y ^a   Abduljabbar, Mohammad A ^b   Miller, Walter L ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b SAUDI ARAMCO   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

17 HYDROXYPREGNENOLONE; ANDROSTENEDIONE; CHOLESTEROL; CORTICOTROPIN; DNA; HYDROCORTISONE; HYDROXYPROGESTERONE; PRASTERONE SULFATE; PREGNENOLONE; PROGESTERONE; STEROIDOGENIC ACUTE REGULATORY PROTEIN; TESTOSTERONE;

ADRENAL GLAND; ANIMAL CELL; ARTICLE; CELL STRAIN COS1; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE ACTIVITY; DISEASE SEVERITY; DNA SEQUENCE; FAMILY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSFECTION; HUMAN; HYPERKALEMIA; HYPONATREMIA; IN VITRO STUDY; INFANT; KARYOTYPE 46,XX; KARYOTYPE 46,XY; MALE; MITOCHONDRION; NEWBORN; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; SALT LOSING NEPHRITIS; SAUDI ARABIA; STEROIDOGENESIS;

ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; EXONS; HUMANS; INFANT; MODELS, MOLECULAR; PHOSPHOPROTEINS; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SAUDI ARABIA;

ANIMALIA;

EID: 14044251615     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2004-1323     Document Type: Article

References (41)

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