Concepedia

DNA-based prenatal exclusion of harlequin ichthyosis

Teruki Yanagi, Masashi Akiyama, Kaori Sakai, Akari Nagasaki, Nobuaki Ozawa, Rika Kosaki, Haruhiko Sago, Hiroshi Shimizu

Journal of the American Academy of Dermatology · 2008 · 27 citations · 8 references

DOI

Concepts

References

8

Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer

Masashi Akiyama · Journal of Clinical Investigation · 2005 · 396 citations · Full text

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Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis

David P. Kelsell, Elizabeth E. Norgett, H Unsworth et al. · The American Journal of Human Genetics · 2005 · 356 citations · Full text

, , +11

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

Caroline Lefèvre · Human Molecular Genetics · 2003 · 292 citations · Full text

, , +17

Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34

Tarmo Annilo, Sergey Shulenin, Z.Q. Chen et al. · Cytogenetic and Genome Research · 2002 · 74 citations

, , +13

DNA-Based Prenatal Diagnosis of Harlequin Ichthyosis and Characterization of ABCA12 Mutation Consequences

Masashi Akiyama, Matthias Titeux, Kaori Sakai et al. · Journal of Investigative Dermatology · 2006 · 67 citations · Full text

, , +16