PMID: 10960480

Fujiwara C, Imamura A, Hashiguchi N, Shimozawa N, Suzuki Y, Kondo N, Imanaka T, Tsukamoto T, Osumi T
Catalase-less peroxisomes. Implication in the milder forms of peroxisome biogenesis disorder.
J Biol Chem. 2000 Nov 24;275(47):37271-7., [PubMed]
Sentences
No. Mutations Sentence Comment
78 ABCD3 p.Glu55Lys
X
ABCD3 p.Glu55Lys 10960480:78:95
status: NEW
view ABCD3 p.Glu55Lys details
 Patient F-01 was homozygous for the R119Stop mutation (42), whereas F-05 was a heterozygote of E55K and R119Stop mutations (12). Login to comment 79 ABCD3 p.Glu55Lys
X
ABCD3 p.Glu55Lys 10960480:79:95
status: NEW
view ABCD3 p.Glu55Lys details
 Patient F-01 was homozygous for the R119Stop mutation (42), whereas F-05 was a heterozygote of E55K and R119Stop mutations (12). Login to comment