Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 2054-345X

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis ; volume:6 ; number:1 ; day:8 ; month:1 ; year:2019 ; pages:1-6 ; date:12.2019
Human genome variation ; 6, Heft 1 (8.1.2019), 1-6, 12.2019

Creator: Kondo, Hiroyuki
Oku, Kazuma
Katagiri, Satoshi
Hayashi, Takaaki
Nakano, Tadashi
Iwata, Akiko
Kuniyoshi, Kazuki
Kusaka, Shunji
Hiyoshi, Atsushi
Uchio, Eiichi
Kondo, Mineo
Oishi, Noriko
Kameya, Shuhei
Mizota, Atsushi
Naoi, Nobuhisa
Ueno, Shinji
Terasaki, Hiroko
Morimoto, Takeshi
Iwaki, Masayoshi
Yoshitake, Kazutoshi
Iejima, Daisuke
Fujinami, Kaoru
Tsunoda, Kazushige
Shinoda, Kei
Iwata, Takeshi

Contributor: SpringerLink (Online service)

DOI: 10.1038/s41439-018-0034-6

URN: urn:nbn:de:101:1-2019021119180398133226

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:50 AM CEST

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Associated

Kondo, Hiroyuki
Oku, Kazuma
Katagiri, Satoshi
Hayashi, Takaaki
Nakano, Tadashi
Iwata, Akiko
Kuniyoshi, Kazuki
Kusaka, Shunji
Hiyoshi, Atsushi
Uchio, Eiichi
Kondo, Mineo
Oishi, Noriko
Kameya, Shuhei
Mizota, Atsushi
Naoi, Nobuhisa
Ueno, Shinji
Terasaki, Hiroko
Morimoto, Takeshi
Iwaki, Masayoshi
Yoshitake, Kazutoshi
Iejima, Daisuke
Fujinami, Kaoru
Tsunoda, Kazushige
Shinoda, Kei
Iwata, Takeshi
SpringerLink (Online service)

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Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis

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Other Objects (12)

X-linked congenital adrenal hypoplasia: a case presentation

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Easily misdiagnosed X-linked adrenoleukodystrophy

Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

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Easily misdiagnosed X-linked adrenoleukodystrophy

Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease

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Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients

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