Dominant missense mutations in ABCC9 cause Cantúsyndrome

Nature Genetics

Volumn 44, Issue 7, 2012, Pages 793-796

  Harakalova, Magdalena ^a   Van Harssel, Jeske J T ^a   Terhal, Paulien A ^a   Van Lieshout, Stef ^a   Duran, Karen ^a   Renkens, Ivo ^a   Amor, David J ^b,c   Wilson, Louise C ^d   Kirk, Edwin P ^e   Turner, Claire L S ^f   Shears, Debbie ^g   Garcia Minaur, Sixto ^h   Lees, Melissa M ^d   Ross, Alison ⁱ   Venselaar, Hanka ^j,k   Vriend, Gert ^j,k   Takanari, Hiroki ^a   Rook, Martin B ^a   Van Der Heyden, Marcel A G ^a   Asselbergs, Folkert W ^a   Breur, Hans M ^a   Swinkels, Marielle E ^a   Scurr, Ingrid J ^l   Smithson, Sarah F ^l   Knoers, Nine V ^a   Van Der Smagt, Jasper J ^a   Nijman, Isaac J ^a   Kloosterman, Wigard P ^a   Van Haelst, Mieke M ^a,m   Van Haaften, Gijs ^a   Cuppen, Edwin ^a   more..

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e SYDNEY CHILDREN'S HOSPITAL   (Australia)

^f ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

^g CHURCHILL HOSPITAL   (United Kingdom)

^h HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

ⁱ Department of Clinical Genetics ^*  (United Kingdom)

^j RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^k RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^l ST MICHAEL'S HOSPITAL   (United Kingdom)

^m IMPERIAL COLLEGE LONDON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ADENOSINE TRIPHOSPHATE SENSITIVE POTASSIUM CHANNEL; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.1; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; PROTEIN ABCC9; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CANTU SYNDROME; CHONDRODYSPLASIA; CLINICAL ARTICLE; CONGENITAL MALFORMATION; ELECTROPHYSIOLOGY; EXOME; GENE SEQUENCE; GENETIC VARIABILITY; HEART DISEASE; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYPERTRICHOSIS; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN STRUCTURE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; ATP-BINDING CASSETTE TRANSPORTERS; CARDIOMEGALY; CELL LINE, TRANSFORMED; CHILD; CHILD, PRESCHOOL; EXOME; FEMALE; GENETIC DISEASES, X-LINKED; GENETIC PREDISPOSITION TO DISEASE; HEK293 CELLS; HUMANS; HYPERTRICHOSIS; INFANT; INFANT, NEWBORN; KATP CHANNELS; MALE; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; POTASSIUM CHANNELS, INWARDLY RECTIFYING; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, DRUG; YOUNG ADULT;

EID: 84863000739     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2324     Document Type: Article

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