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 journalLetter

4 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

@article{1b73376b588f44caa2631458878261a1,
title = "Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6",
author = "Kazumitsu Sugiura and Yasushi Suga and Masashi Akiyama",
year = "2014",
month = "1",
day = "1",
doi = "10.1016/j.jdermsci.2014.05.009",
language = "English",
volume = "75",
pages = "199--201",
journal = "Journal of Dermatological Science",
issn = "0923-1811",
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number = "3",

}

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 journalLetter

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

M3 - Letter

C2 - 24996587

AN - SCOPUS:84904957507

VL - 75

SP - 199

EP - 201

JO - Journal of Dermatological Science

JF - Journal of Dermatological Science

SN - 0923-1811

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