Early clinical diagnosis of PC1/3 deficiency in a patient with a novel homozygous PCSK1 splice-site mutation

Journal of Pediatric Gastroenterology and Nutrition

Volumn 62, Issue 4, 2016, Pages 577-580

  Harter, Bettina ^a   Fuchs, Irene ^b   Muller, Thomas ^b   Akbulut, Ulas Emre ^c   Cakir, Murat ^c   Janecke, Andreas R ^b  

^a Dept of Medical Computer Sciences   (Austria)

^b INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^c KARADENIZ TECHNICAL UNIVERSITY   (Turkey)

Author keywords

Congenital malabsorptive diarrhea; Diabetes insipidus; Early diagnosis; PC1 3 deficiency; PCSK1 mutation

Indexed keywords

C PEPTIDE; COMPLEMENTARY DNA; INSULIN; MESSENGER RNA; PROINSULIN; PROPROTEIN CONVERTASE 1; PROPROTEIN CONVERTASE 3; SERINE PROTEINASE; UNCLASSIFIED DRUG; PCSK1 PROTEIN, HUMAN; RNA SPLICE SITE; STOP CODON;

ABDOMINAL OBESITY; ARTICLE; BODY HEIGHT; CASE REPORT; CODON; DIARRHEA; EARLY DIAGNOSIS; ENZYME DEFICIENCY; FEMALE; GENE; GENE MUTATION; HUMAN; HYPERNATREMIA; INFANT; INSULIN BLOOD LEVEL; NEWBORN SCREENING; PARENTERAL NUTRITION; PEDIATRIC HOSPITAL; POLYMERASE CHAIN REACTION; POLYURIA; PRIORITY JOURNAL; PROPROTEIN CONVERTASE 1 DEFICIENCY; PROPROTEIN CONVERTASE 3 DEFICIENCY; PROPROTEIN CONVERTASE SUBTILISIN KEXIN TYPE 1 GENE; SEQUENCE ANALYSIS; SIGMOIDOSCOPY; CELL CULTURE; CHEMISTRY; DEFICIENCY; DNA MUTATIONAL ANALYSIS; ENDOCRINE SYSTEM DISEASES; ENZYMOLOGY; GENETICS; GROWTH DISORDERS; HOMOZYGOTE; METABOLISM; MUTATION; OBESITY; PATHOLOGY; PATHOPHYSIOLOGY; RNA SPLICE SITE; RNA STABILITY; SEVERITY OF ILLNESS INDEX; SKIN; STOP CODON; TREATMENT OUTCOME; TURKEY;

CELLS, CULTURED; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EARLY DIAGNOSIS; ENDOCRINE SYSTEM DISEASES; FEMALE; GROWTH DISORDERS; HOMOZYGOTE; HUMANS; INFANT; MUTATION; OBESITY; PARENTERAL NUTRITION; PROPROTEIN CONVERTASE 1; RNA SPLICE SITES; RNA STABILITY; RNA, MESSENGER; SEVERITY OF ILLNESS INDEX; SKIN; TREATMENT OUTCOME; TURKEY;

EID: 84944811164     PISSN: 02772116     EISSN: 15364801     Source Type: Journal    
DOI: 10.1097/MPG.0000000000001018     Document Type: Article

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