ABCD3 p.Glu55Lys
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PMID: 10960480
[PubMed]
Fujiwara C et al: "Catalase-less peroxisomes. Implication in the milder forms of peroxisome biogenesis disorder."
No.
Sentence
Comment
79
Patient F-01 was homozygous for the R119Stop mutation (42), whereas F-05 was a heterozygote of E55K and R119Stop mutations (12).
X
ABCD3 p.Glu55Lys 10960480:79:95
status: NEW78 Patient F-01 was homozygous for the R119Stop mutation (42), whereas F-05 was a heterozygote of E55K and R119Stop mutations (12).
X
ABCD3 p.Glu55Lys 10960480:78:95
status: NEW