Phenotypical variability in glycogen storage disease type III with a recurrent AGL mutation c.750-753delAGAC

Muscle and Nerve

Volumn 43, Issue 3, 2011, Pages 451-

  Okubo, Minoru ^a   Spengos, Konstantinos ^b   Manta, Panagiota ^b   Fateen, Ekram ^c  

^a TORANOMON HOSPITAL   (Japan)

^b UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^c NATIONAL RESEARCH CENTRE   (Egypt)

Author keywords

[No Author keywords available]

Indexed keywords

AGL GENE; EGYPT; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 3; GREECE; HAPLOTYPE; HUMAN; LETTER; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; GENE DELETION; GENETIC VARIATION; GLYCOGEN STORAGE DISEASE TYPE III; HUMANS; MUTATION; PHENOTYPE; RECURRENCE;

EID: 79951867456     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21943     Document Type: Letter

References (8)

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