Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6

Kazumitsu Sugiura, Yasushi Suga, Masashi Akiyama

Research output: Contribution to journal › Letter

3 Citations (Scopus)
Original languageEnglish
Pages (from-to)199-201
Number of pages3
JournalJournal of Dermatological Science
Volume75
Issue number3
DOIs
Publication statusPublished - 01-01-2014

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1-Acylglycerol-3-Phosphate O-Acyltransferase
RNA Splice Sites
Alternative Splicing
Exons
Brain
RNA
Messenger RNA

All Science Journal Classification (ASJC) codes

  • Dermatology
  • Biochemistry
  • Molecular Biology
  • Medicine(all)

Cite this

Sugiura, Kazumitsu ; Suga, Yasushi ; Akiyama, Masashi. / Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6. In: Journal of Dermatological Science. 2014 ; Vol. 75, No. 3. pp. 199-201.
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title = "Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6",
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Sugiura, K, Suga, Y & Akiyama, M 2014, 'Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6', Journal of Dermatological Science, vol. 75, no. 3, pp. 199-201. https://doi.org/10.1016/j.jdermsci.2014.05.009

Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6. / Sugiura, Kazumitsu; Suga, Yasushi; Akiyama, Masashi.

In: Journal of Dermatological Science, Vol. 75, No. 3, 01.01.2014, p. 199-201.

Research output: Contribution to journal › Letter

TY - JOUR

T1 - Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6

AU - Sugiura, Kazumitsu

AU - Suga, Yasushi

AU - Akiyama, Masashi

PY - 2014/1/1

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U2 - 10.1016/j.jdermsci.2014.05.009

DO - 10.1016/j.jdermsci.2014.05.009

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JO - Journal of Dermatological Science

JF - Journal of Dermatological Science

SN - 0923-1811

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Sugiura K, Suga Y, Akiyama M. Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6. Journal of Dermatological Science. 2014 Jan 1;75(3):199-201. https://doi.org/10.1016/j.jdermsci.2014.05.009

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