ALG6-CDG in South Africa: Genotype-phenotype description of five novel patients

JIMD Reports

Volumn 8, Issue , 2013, Pages 17-23

  Dercksen, M ^a   Crutchley, A C ^b   Honey, E M ^c   Lippert, M M ^d   Matthijs, G ^f   Mienie, L J ^a   Schuman, H C ^e   Vorster, B C ^a   Jaeken, J ^f  

^a NORTH WEST UNIVERSITY   (South Africa)

^b Chelmsford Med Cent   (South Africa)

^c UNIVERSITY OF PRETORIA   (South Africa)

^d Private Practice   (South Africa)

^e Private Practice   (South Africa)

^f UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

ALG6 Gene; ALG6 Protein; Compound heterozygous; Frameshift mutation; Neurological involvement

Indexed keywords

EID: 85017654682     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2012_150     Document Type: Chapter

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