Concepedia

Apparent homozygosity due to compound heterozygosity of one point mutation and an overlapping exon deletion mutation in ABCA12: A genetic diagnostic pitfall

Akitaka Shibata, Kazumitsu Sugiura, Atsushi Suzuki, Takashi Ichiki, Masashi Akiyama

Journal of Dermatological Science · 2015 · 17 citations · 15 references

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Concepts

References

15

A new genetic concept: Uniparental disomy and its potential effect, isodisomy

Eric Engel · American Journal of Medical Genetics · 1980 · 573 citations

, , +14

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

, , +15

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

Trisomic rescue causing reduction to homozygosity for a novel <i>ABCA12</i> mutation in harlequin ichthyosis

Daniele Castiglia, Marco Castori, Elisa Pisaneschi et al. · Clinical Genetics · 2009 · 90 citations

, , +17

Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes

Kaori Sakai, Masashi Akiyama, Yoriko Sugiyama‐Nakagiri et al. · Experimental Dermatology · 2007 · 75 citations

, , +15