Art
J-GLOBAL ID：201702286619978941   Reference number：17A0283537

Identification of a Factor VIII Exon 14 novel frame shift mutation c. 2138 delA, p.(N713Tfs*9) in Saudi Arabian patient: Genotype-Phenotype Correlation

サウジアラビア人患者における第VIII因子エキソン14のフレームシフト突然変異c.2138delA,p.(N713Tfs*9)の同定:遺伝子型ー表現型相関
Author (11)：
ALLAF Faisal A.

About ALLAF Faisal A.

(Umm-Al-Qura Univ., Makkah, SAU)

About Umm-Al-Qura Univ., Makkah, SAU

, 
ALLAF Faisal A.

About ALLAF Faisal A.

(Umm Al-Qura Univ., Makkah)

About Umm Al-Qura Univ., Makkah

, 
ALLAF Faisal A.

About ALLAF Faisal A.

(King Abdullah Medical City, Makkah)

About King Abdullah Medical City, Makkah

, 
TAHER Mohiuddin M.

About TAHER Mohiuddin M.

(Umm Al-Qura Univ., Makkah)

About Umm Al-Qura Univ., Makkah

, 
ABDULJALEEL Zainularifeen

About ABDULJALEEL Zainularifeen

(Umm Al-Qura Univ., Makkah)

About Umm Al-Qura Univ., Makkah

, 
ATHAR Mohammed

About ATHAR Mohammed

(Umm Al-Qura Univ., Makkah)

About Umm Al-Qura Univ., Makkah

, 
ABALKHAIL Halah

About ABALKHAIL Halah

(King Faisal Specialist Hospital and Res. Centre, Riyadh, SAU)

About King Faisal Specialist Hospital and Res. Centre, Riyadh, SAU

, 
BA-HAMMAM Faisal A.

About BA-HAMMAM Faisal A.

(Umm Al-Qura Univ., Makkah)

About Umm Al-Qura Univ., Makkah

, 
ABDULLA Munir

About ABDULLA Munir

(Umm Al-Qura Univ., Makkah)

About Umm Al-Qura Univ., Makkah

, 
BOUAZZAOUI Abdellatif

About BOUAZZAOUI Abdellatif

(Umm Al-Qura Univ., Makkah)

About Umm Al-Qura Univ., Makkah

, 
OWAIDAH Tarek M.

About OWAIDAH Tarek M.

(King Faisal Specialist Hospital and Res. Centre, Riyadh, SAU)

About King Faisal Specialist Hospital and Res. Centre, Riyadh, SAU


Material：
日本人類遺伝学会大会プログラム・抄録集  (日本人類遺伝学会大会)

About 日本人類遺伝学会大会プログラム・抄録集


Volume： 61st(Web)  Page： ROMBUNNO.Mon(2)-P-200 (WEB ONLY)  Publication year： 2016 
JST Material Number： L1204A  Document type： Proceedings
Article type： 短報  Country of issue： Japan (JPN)  Language： ENGLISH (EN)
Thesaurus term：
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All keywords is available on JDreamIII(charged).
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*factor VIII

About factor VIII

,...
Semi thesaurus term：
Thesaurus term/Semi thesaurus term
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All keywords is available on JDreamIII(charged).
On J-GLOBAL, this item will be available after more than half a year after the record posted. In addtion, medical articles require to login to MyJ-GLOBAL.
エキソン14

About エキソン14

,...
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JST classification (4)：
JST classification
Category name(code) classified by JST.
Anthropology 
(EA01070K)

About Anthropology

,  Genetic variation 
(EC01030Y)

About Genetic variation

,  Congenital diseases,deformities in general. 
(GD03010V)

About Congenital diseases,deformities in general.

,  Hematologic diagnosis 
(GK02000Y)

About Hematologic diagnosis

Terms in the title (8)：
Terms in the title
Keywords automatically extracted from the title.
サウジアラビア

About サウジアラビア

, 
患者

About 患者

, 
第VIII因子

About 第VIII因子

, 
エキソン

About エキソン

, 
フレームシフト突然変異

About フレームシフト突然変異

, 
同定

About 同定

, 
遺伝子型

About 遺伝子型

, 
表現型相関

About 表現型相関


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