The genetic basis of triple A (Allgrove) syndrome in a Greek family

Gene

Volumn 512, Issue 2, 2013, Pages 505-509

  Papageorgiou, Labrini ^a   Mimidis, Konstantinos ^a   Katsani, Katerina R ^a   Fakis, Giannoulis ^a  

^a DEMOCRITUS UNIVERSITY OF THRACE   (Greece)

Author keywords

AAAS gene; Achalasia; Addison's disease; Alacrima; Nucleoporin ALADIN; Triple A Allgrove syndrome

Indexed keywords

ARTIFICIAL TEAR; CALCIUM; HYDROCORTISONE; PROTEIN; PROTEIN ALACRIMA ACHALASIA ADRENAL INSUFFICIENCY NEUROLOGIC DISORDER; UNCLASSIFIED DRUG; VITAMIN D;

AAAS GENE; ADDISON DISEASE; ADULT; ALLGROVE SYNDROME; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CARDIOESOPHAGOMYOTOMY; CASE REPORT; DIET SUPPLEMENTATION; DISEASE ASSOCIATION; ESOPHAGUS ACHALASIA; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENETIC SCREENING; GREECE; HOMOZYGOSITY; HUMAN; INFORMED CONSENT; MUTATIONAL ANALYSIS; OSTEOPOROSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; XEROPHTHALMIA;

ADRENAL INSUFFICIENCY; ADULT; AMINO ACID SUBSTITUTION; ESOPHAGEAL ACHALASIA; EXONS; FAMILY; FEMALE; FRAMESHIFT MUTATION; GREECE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; NUCLEAR PORE COMPLEX PROTEINS; RNA SPLICE SITES;

EUKARYOTA;

EID: 84870386087     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.10.008     Document Type: Article

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