Case of Conradi–Hünermann–Happle syndrome due to a nonsense mutation of c.245G>A (p.W82*)

Mao Satake, Kyoko Kudo, Takashi Sasaki, Masutaka Furue, Akiharu Kubo

Research output: Contribution to journalLetter

Original languageEnglish
JournalJournal of Dermatology
DOIs
Publication statusPublished - 2019 Jan 1

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Chondrodysplasia Punctata
Nonsense Codon

ASJC Scopus subject areas

  • Dermatology

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Case of Conradi–Hünermann–Happle syndrome due to a nonsense mutation of c.245G>A (p.W82*). / Satake, Mao; Kudo, Kyoko; Sasaki, Takashi; Furue, Masutaka; Kubo, Akiharu.

In: Journal of Dermatology, 01.01.2019.

Research output: Contribution to journalLetter

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AU - Kubo, Akiharu

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