✦ LIBER ✦

Mutation in PEX16 Is Causal in the Peroxisome-Deficient Zellweger Syndrome of Complementation Group D

✍ Scribed by Masanori Honsho; Shigehiko Tamura; Nobuyuki Shimozawa; Yasuyuki Suzuki; Naomi Kondo; Yukio Fujiki

Book ID: 117852646
Publisher: American Society of Human Genetics
Year: 1998
Tongue: English
Weight: 535 KB
Volume: 63
Category: Article
ISSN: 0002-9297
DOI: 10.1086/302161

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

PEX3 Is the Causal Gene Responsible for

PEX3 Is the Causal Gene Responsible for Peroxisome Membrane Assembly–Defective Zellweger Syndrome of Complementation Group G

✍ Kamran Ghaedi; Masanori Honsho; Nobuyuki Shimozawa; Yasuyuki Suzuki; Naomi Kondo 📂 Article 📅 2000 🏛 American Society of Human Genetics 🌐 English ⚖ 387 KB

Defective Peroxisome Membrane Synthesis

Defective Peroxisome Membrane Synthesis Due To Mutations in Human PEX3 Causes Zellweger Syndrome, Complementation Group G

✍ Ania C. Muntau; Peter U. Mayerhofer; Barbara C. Paton; Stefan Kammerer; Adelbert 📂 Article 📅 2000 🏛 American Society of Human Genetics 🌐 English ⚖ 837 KB

PEX13 Is Mutated in Complementation Grou

PEX13 Is Mutated in Complementation Group 13 of the Peroxisome-Biogenesis Disorders

✍ Yifei Liu; Jonas Björkman; Aaron Urquhart; Ronald J.A. Wanders; Denis I. Crane; 📂 Article 📅 1999 🏛 American Society of Human Genetics 🌐 English ⚖ 555 KB

Human PEX1 is mutated in complementation

Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders

✍ Portsteffen, Herma; Beyer, Andreas; Becker, Elisabeth; Epplen, Cornelia; Pawlak, 📂 Article 📅 1997 🏛 Nature Publishing Group 🌐 English ⚖ 724 KB

A Novel Aberrant Splicing Mutation of th

A Novel Aberrant Splicing Mutation of the PEX16 Gene in Two Patients with Zellweger Syndrome

✍ Nobuyuki Shimozawa; Tomoko Nagase; Yasuhiko Takemoto; Yasuyuki Suzuki; Yukio Fuj 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 153 KB

A common PEX1 frameshift mutation in pat

A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype

✍ M.A. Maxwell; P.V. Nelson; S.J. Chin; B.C. Paton; W.F. Carey; D.I. Crane 📂 Article 📅 1999 🏛 Springer 🌐 English ⚖ 236 KB