Apparent homozygosity due to compound heterozygosity of one point mutation and an overlapping exon deletion mutation in ABCA12 : a genetic diagnostic pitfall

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DOI[10.1016/j.jdermsci.2015.10.003]to the data of the same series

Apparent homozygosity due to compound heterozygosity of one point mutation and an overlapping exon deletion mutation in ABCA12 : a genetic diagnostic pitfall

Persistent ID (NDL): info:ndljp/pid/10192458

Material type: 博士論文

Author: 柴田, 章貴

Publisher: 柴田, 章貴

Publication date: 2016

Material Format: Digital

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Name of awarding university/degree: 名古屋大学,博士（医学）

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Material Type: 博士論文
Title: Apparent homozygosity due to compound heterozygosity of one point mutation and an overlapping exon deletion mutation in ABCA12 : a genetic diagnostic pitfall
Author/Editor: 柴田, 章貴
Publication, Distribution, etc.: 柴田, 章貴
Publication Date: 2016
Publication Date (W3CDTF): 2016
Alternative Title: ABCA12遺伝子の点変異と重複するエクソン欠損変異の複合ヘテロ接合体におけるapparent homozygosity
Degree grantor/type: 名古屋大学
Date Granted: 2016-03-25
Date Granted (W3CDTF): 2016-03-25
Dissertation Number: 甲第11259号
Degree Type: 博士（医学）
Text Language Code: eng
Alias of Author: Shibata, Akitaka
DOI: 10.1016/j.jdermsci.2015.10.003
https://doi.org/10.1016/j.jdermsci.2015.10.003
Persistent ID (NDL): info:ndljp/pid/10192458
https://dl.ndl.go.jp/pid/10192458
Collection: 障害者向け資料
Collection (Materials For Handicapped People:1): テキストデータ
Collection (particular): 国立国会図書館デジタルコレクション > デジタル化資料 > 博士論文
https://dl.ndl.go.jp/collections/A00014
Acquisition Basis: 博士論文（送信）
Date Accepted (W3CDTF): 2016-09-02T13:59:59+09:00
Format (IMT): application/pdf
Access Restrictions: 国立国会図書館内限定公開
Service for the Digitized Contents Transmission Service: 図書館・個人送信対象外
Availability of remote photoduplication service: 可
Data Provider (Database): 国立国会図書館 : 国立国会図書館デジタルコレクション
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