Art
J-GLOBAL ID：201702222794638760   Reference number：17A0285235

Homozygous ADCY5 mutation causes movement disorder with severe intellectual disability

ホモ接合性ADCY5突然変異は重篤な知的障害を伴う運動障害を引き起こす
Author (10)：
OKAMOTO Nobuhiko

About OKAMOTO Nobuhiko

(Osaka Medical Center and Res. Inst. for Maternal and Child Health, JPN)

About Osaka Medical Center and Res. Inst. for Maternal and Child Health, JPN

, 
MIYA Fuyuki

About MIYA Fuyuki

(Tokyo Medical and Dental Univ.)

About Tokyo Medical and Dental Univ.

, 
MIYA Fuyuki

About MIYA Fuyuki

(RIKEN)

About RIKEN

, 
TSUNODA Tatsuhiko

About TSUNODA Tatsuhiko

(Tokyo Medical and Dental Univ.)

About Tokyo Medical and Dental Univ.

, 
TSUNODA Tatsuhiko

About TSUNODA Tatsuhiko

(RIKEN)

About RIKEN

, 
KATO Mitsuhiro

About KATO Mitsuhiro

(Showa Univ. School of Medicine)

About Showa Univ. School of Medicine

, 
SAITOH Shinji

About SAITOH Shinji

(Nagoya City Univ. Graduate School of Medical Sci.)

About Nagoya City Univ. Graduate School of Medical Sci.

, 
YAMASAKI Mami

About YAMASAKI Mami

(Takatsuki General Hospital)

About Takatsuki General Hospital

, 
KANEMURA Yonehiro

About KANEMURA Yonehiro

(Osaka National Hospital)

About Osaka National Hospital

, 
KOSAKI Kenjiro

About KOSAKI Kenjiro

(Keio Univ. School of Medicine)

About Keio Univ. School of Medicine


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.Wed(4)-P-77 (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：
Thesaurus term/Semi thesaurus term
Keywords indexed to the article.
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*nucleotide sequence

About nucleotide sequence

,...
Semi thesaurus term：
Thesaurus term/Semi thesaurus term
Keywords indexed to the article.
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.
*homozygosity

About homozygosity

,...
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JST classification (5)：
JST classification
Category name(code) classified by JST.
Structure and chemistry of genes 
(EC02020U)

About Structure and chemistry of genes

,  Genetic variation 
(EC01030Y)

About Genetic variation

,  Nervous system diseases 
(GN03000O)

About Nervous system diseases

,  Musculoskeletal diseases 
(GG03000T)

About Musculoskeletal diseases

,  Enzyme in general 
(EB09010D)

About Enzyme in general

Substance index (2)：
Substance index
Chemical Substance indexed to the Article.
adenosine triphosphate

About adenosine triphosphate

, 
cAMP

About cAMP

Terms in the title (4)：
Terms in the title
Keywords automatically extracted from the title.
ホモ接合性

About ホモ接合性

, 
突然変異

About 突然変異

, 
知的障害

About 知的障害

, 
運動障害

About 運動障害


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