Novel pathogenic mutations and copy number variations in the VPS13A Gene in patients with chorea-acanthocytosis

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 156, Issue 5, 2011, Pages 620-631

  Tomiyasu, Akiyuki ^a   Nakamura, Masayuki ^a   Ichiba, Mio ^a   Ueno, Shuichi ^b   Saiki, Shinji ^c   Morimoto, Mizuki ^d   Kobal, Jan ^e   Kageyama, Yasufumi ^f   Inui, Toshio ^g   Wakabayashi, Koichi ^h   Yamada, Tatsuo ⁱ   Kanemori, Yuji ^j   Jung, Hans H ^k   Tanaka, Haruhiko ^l   Orimo, Satoshi ^m   Afawi, Zaid ⁿ   Blatt, Ilan ^o   Aasly, Jan ^p   Ujike, Hiroshi ^d   Babovic Vuksanovic, Dusica ^q   Josephs, Keith A ^q   Tohge, Rie ^r   Rodrigues, Guilherme Riccioppo ^s   Dupré, Nicolas ^t   Yamada, Hidetaka ^u   Yokochi, Fusako ^r   Kotschet, Katya ^v   Takei, Takanobu ^w   Rudzińska, Monika ^x   Szczudlik, Andrzej ^x   Penco, Silvana ^y   Fujiwara, Masaki ^d   Tojo, Kana ^z   Sano, Akira ^a   more..

^a KAGOSHIMA UNIVERSITY   (Japan)

^b EHIME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d OKAYAMA UNIVERSITY   (Japan)

^e UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

^f Hyogo Prefectural Hosp   (Japan)

^g Yoshinogawa   (Japan)

^h HIROSAKI UNIVERSITY   (Japan)

ⁱ FUKUOKA UNIVERSITY   (Japan)

^j KYUSHU UNIVERSITY   (Japan)

^k UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^l UNIVERSITY OF TOKYO   (Japan)

^m The Mutualaid Association of Public School Teachers)   (Japan)

ⁿ TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^o SHEBA MEDICAL CENTER   (Israel)

^p TRONDHEIM UNIVERSITY HOSPITAL   (Norway)

^q MAYO CLINIC   (United States)

^r TOKYO METROPOLITAN NEUROLOGICAL HOSPITAL   (Japan)

^s UNIVERSITY OF SÃO PAULO   (Brazil)

^t UNIVERSITÉ LAVAL   (Canada)

^u KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^v ST VINCENT S HOSPITAL   (Australia)

^w KYUSHU ROSAI HOSPITAL   (Japan)

^x JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

^y OSPEDALE NIGUARDA CA GRANDA   (Italy)

^z SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

more..

Author keywords

Chorea acanthocytosis; Chorein; Copy number variations; VPS13A

Indexed keywords

PROTEIN SERINE THREONINE KINASE; UNCLASSIFIED DRUG; VACUOLAR PROTEIN SORTING 13 HOMOLOG A;

ADULT; ARTICLE; CHOREA-ACANTHOCYTOSIS; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; DNA FLANKING REGION; ERYTHROCYTE GHOST; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; MOLECULAR DIAGNOSIS; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; WESTERN BLOTTING;

BASE SEQUENCE; BLOTTING, WESTERN; DNA COPY NUMBER VARIATIONS; ERYTHROCYTE MEMBRANE; HUMANS; IMMUNOBLOTTING; MUTATION; NEUROACANTHOCYTOSIS; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; VESICULAR TRANSPORT PROTEINS;

EID: 79958719790     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.31206     Document Type: Article

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