Spectrum of mutations of the AAAS gene in allgrove syndrome: Lack of mutations in six kindreds with isolated resistance to corticotropin

Journal of Clinical Endocrinology and Metabolism

Volumn 86, Issue 11, 2001, Pages 5433-5437

  Sandrini, Fabiano ^a   Farmakidis, Constantine ^a   Kirschner, Lawrence S ^a   Wu, Shao Ming ^b   Tullio Pelet, Anna ^c   Lyonnet, Stanislas ^c   Metzger, Daniel L ^d   Bourdony, Carlos J ^e   Tiosano, Dov ^f   Chan, Wai Yee ^b   Stratakis, Constantine A ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b GEORGETOWN UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d BC CHILDREN S HOSPITAL   (Canada)

^e Children's Hospital   (Puerto Rico)

^f RAMBAM MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CORTICOTROPIN; CORTICOTROPIN RECEPTOR; GLUTAMINE; LYSINE; PROTEIN; PROTEIN ALADIN; UNCLASSIFIED DRUG;

ADRENAL INSUFFICIENCY; ALLGROVE SYNDROME; AMINO ACID SUBSTITUTION; ARAB; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 12Q; CLINICAL ARTICLE; EXON; FEMALE; GENE DELETION; GENE MAPPING; GENE MUTATION; GENE REARRANGEMENT; HETEROZYGOSITY; HORMONE RESISTANCE; HUMAN; MALE; POINT MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 17944382121     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.86.11.8037     Document Type: Article

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