The first Japanese case of autosomal dominant cutis laxa with a frameshift mutation in exon 30 of the elastin gene complicated by small airway disease with 8 years of follow-up

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: The first Japanese case of autosomal dominant cutis laxa with a frameshift mutation in exon 30 of the elastin gene complicated by small airway disease with 8 years of follow-up ; volume:24 ; number:1 ; day:1 ; month:10 ; year:2024 ; pages:1-9 ; date:12.2024
BMC pulmonary medicine ; 24, Heft 1 (1.10.2024), 1-9, 12.2024

Creator: Kaji, Masanori
Namkoong, Ho
Chubachi, Shotaro
Tanaka, Hiromu
Asakura, Takanori
Haraguchi Hashiguchi, Mizuha
Yamada, Mamiko
Uehara, Tomoko
Suzuki, Hisato
Tanabe, Naoya
Yamada, Yoshitake
Nozaki, Taiki
Ouchi, Takeshi
Tsuji, Atsutoshi
Kosaki, Kenjiro
Hasegawa, Naoki
Fukunaga, Koichi

Contributor: SpringerLink (Online service)

DOI: 10.1186/s12890-024-03290-5

URN: urn:nbn:de:101:1-2412182105474.860750625311

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

Last update: 15.08.2025, 7:35 AM CEST

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Associated

Kaji, Masanori
Namkoong, Ho
Chubachi, Shotaro
Tanaka, Hiromu
Asakura, Takanori
Haraguchi Hashiguchi, Mizuha
Yamada, Mamiko
Uehara, Tomoko
Suzuki, Hisato
Tanabe, Naoya
Yamada, Yoshitake
Nozaki, Taiki
Ouchi, Takeshi
Tsuji, Atsutoshi
Kosaki, Kenjiro
Hasegawa, Naoki
Fukunaga, Koichi
SpringerLink (Online service)

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The first Japanese case of autosomal dominant cutis laxa with a frameshift mutation in exon 30 of the elastin gene complicated by small airway disease with 8 years of follow-up

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Other Objects (12)

A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report

Novel frameshift variant of WNT10A in a Japanese patient with hypodontia

Aligning coding sequences with frameshift extension penalties

Mass spectrometric characterization of elastin peptides and the effect of solar radiation on elastin

Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes

A new frameshift mutation of the β-spectrin gene associated with hereditary spherocytosis

First Case Report of an Infant with Aplasia Cutis Congenita of Scalp and Myelomeningocele

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Mass spectrometric characterization of elastin peptides and the effect of solar radiation on elastin

Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes

A new frameshift mutation of the β-spectrin gene associated with hereditary spherocytosis

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Cutis.

Calcinosis Cutis: Report of 4 Cases

Co-occurrence of frameshift mutations in SMAD6 and TCF12 in a child with complex craniosynostosis

Atypical CHARGE associated with a novel frameshift mutation of CHD7 in a Chinese neonatal patient

Independent DSG4 frameshift variants in cats with hair shaft dystrophy

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Novel frameshift variant of WNT10A in a Japanese patient with hypodontia

Aligning coding sequences with frameshift extension penalties

Mass spectrometric characterization of elastin peptides and the effect of solar radiation on elastin

Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes

A new frameshift mutation of the β-spectrin gene associated with hereditary spherocytosis

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Co-occurrence of frameshift mutations in SMAD6 and TCF12 in a child with complex craniosynostosis

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