Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

American Journal of Human Genetics

Volumn 87, Issue 6, 2010, Pages 813-819

  Vermeer, Sascha ^a   Hoischen, Alexander ^a   Meijer, Rowdy P P ^a   Gilissen, Christian ^a   Neveling, Kornelia ^a   Wieskamp, Nienke ^a   De Brouwer, Arjan ^a   Koenig, Michel ^c,d   Anheim, Mathieu ^e,f,g   Assoum, Mirna ^c   Drouot, Nathalie ^c   Todorovic, Slobodanka ^h   Milic Rasic, Vedrana ^h   Lochmüller, Hanns ⁱ   Stevanin, Giovanni ^e,f,g,j   Goizet, Cyril ^k   David, Albert ^l   Durr, Alexandra ^e,f,g,j   Brice, Alexis ^e,f,g,j   Kremer, Berry ^b   Van De Warrenburg, Bart P C ^a   Schijvenaars, Mascha M V A P ^a   Heister, Angelien ^a   Kwint, Michael ^a   Arts, Peer ^a   Van Der Wijst, Jenny ^a   Veltman, Joris ^a   Kamsteeg, Erik Jan ^a   Scheffer, Hans ^a   Knoers, Nine ^a   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c UNIVERSITÉ DE STRASBOURG   (France)

^d HÔPITAL CIVIL   (France)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f SORBONNE UNIVERSITÉ   (France)

^g INSERM   (France)

^h UNIVERSITY OF BELGRADE   (Serbia)

ⁱ NEWCASTLE UNIVERSITY   (United Kingdom)

^j CNRS   (France)

^k UNIVERSITÉ DE BORDEAUX   (France)

^l NANTES UNIVERSITY HOSPITAL   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ANOCTAMIN 10; PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CEREBELLAR ATAXIA; CHROMOSOME; CLINICAL ARTICLE; FEMALE; FRAMESHIFT MUTATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; MALE; MICROARRAY ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 78649774853     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.10.015     Document Type: Article

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