NNT pseudoexon activation as a novel mechanism for disease in two siblings with familial glucocorticoid deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 100, Issue 2, 2015, Pages E350-E354

  Novoselova, Tatiana V ^a   Rath, Shoshana R ^b,e   Carpenter, Karen ^c   Pachter, Nicholas ^d,e   Dickinson, Jan E ^f   Price, Glynis ^b   Chan, Li F ^a   Choong, Catherine S ^b,e   Metherell, Louise A ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b Princess Margaret Hospital for Children   (United States)

^c PATHWEST LABORATORY MEDICINE   (Australia)

^d Department of Anaesthesia and Pain Medicine   (United States)

^e UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^f UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; NICOTINAMIDE ADENINE DINUCLEOTIDE (PHOSPHATE) TRANSHYDROGENASE;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ACTIVITY; DISEASE ASSOCIATION; EAST ASIAN; EXON; FAMILIAL GLUCOCORTICOID DEFICIENCY; FEMALE; FOLLOW UP; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; HETEROZYGOTE DETECTION; HORMONE DEFICIENCY; HUMAN; MALE; MEDICAL HISTORY; MOLECULAR DYNAMICS; MOLECULAR PATHOLOGY; NICOTINAMIDE NUCLEOTIDE TRANSHYDROGENASE GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSEUDOEXON; PSEUDOGENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SEQUENCE ANALYSIS; SIBLING; SOUTH AFRICAN; ADRENAL INSUFFICIENCY; GENETICS; INFANT; INTRON; PEDIGREE;

ADRENAL INSUFFICIENCY; FEMALE; HUMANS; INFANT; INTRONS; MALE; NADP TRANSHYDROGENASES; PEDIGREE; SIBLINGS;

EID: 84928331669     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-3641     Document Type: Article

References (15)

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