A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site.

Human mutation

Volumn 28, Issue 7, 2007, Pages 742-

  Burdon, Kathryn P ^a   Sharma, Shiwani ^a   Chen, Celia S ^a   Dimasi, David P ^a   Mackey, David A ^a   Craig, Jamie E ^a  

^a FLINDERS UNIVERSITY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN; FTL PROTEIN, HUMAN; PRIMER DNA; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BLOOD; CASE REPORT; CATARACT; CHILD; FEMALE; GENE DELETION; GENETIC TRANSCRIPTION; GENETICS; HUMAN; NUCLEOTIDE SEQUENCE;

ADULT; BASE SEQUENCE; CATARACT; CHILD; DNA PRIMERS; FEMALE; FERRITINS; GENE DELETION; HUMANS; TRANSCRIPTION, GENETIC;

EID: 34447629519     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9501     Document Type: Article

References (0)