A novel large deletion encompassing the whole of the galactose-1-phosphate uridyltransferase (GALT) gene and extending into the adjacent interleukin 11 receptor alpha (IL11RA) gene causes classic galactosemia associated with additional phenotypic abnormalities

JIMD Reports

Volumn 12, Issue , 2014, Pages 91-98

  Papachristoforou, Rena ^a   Petrou, Petros P ^a   Sawyer, Hilary ^b   Williams, Maggie ^b   Drousiotou, Anthi ^a  

^a CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^b SOUTHMEAD HOSPITAL   (United Kingdom)

Author keywords

Classic galactosemia; Deletion carrier; Galt activity; IL11RA Gene; Large deletion

Indexed keywords

EID: 85028804772     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2013_249     Document Type: Chapter

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