Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

Nature Genetics

Volumn 47, Issue 6, 2015, Pages 661-667

  Kortüm, Fanny ^a   Caputo, Viviana ^b   Bauer, Christiane K ^a   Stella, Lorenzo ^c   Ciolfi, Andrea ^d   Alawi, Malik ^a,e,f   Bocchinfuso, Gianfranco ^c   Flex, Elisabetta ^d   Paolacci, Stefano ^b,d   Dentici, Maria Lisa ^g   Grammatico, Paola ^b   Korenke, Georg Christoph ^h   Leuzzi, Vincenzo ^b   Mowat, David ^i,j   Nair, Lal D V ^k   Nguyen, Thi Tuyet Mai ^l   Thierry, Patrick ^m   White, Susan M ^n,o   Dallapiccola, Bruno ^g   Pizzuti, Antonio ^b   Campeau, Philippe M ^l   Tartaglia, Marco ^d,g   Kutsche, Kerstin ^a   more..

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c UNIVERSITY OF ROME TOR VERGATA   (Italy)

^d ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^e UNIVERSITY OF HAMBURG   (Germany)

^f LEIBNIZ INSTITUTE FOR EXPERIMENTAL VIROLOGY   (Germany)

^g BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^h KLINIKUM OLDENBURG   (Germany)

ⁱ SYDNEY CHILDREN'S HOSPITAL   (Australia)

^j UNIVERSITY OF NEW SOUTH WALES   (Australia)

^k SAVEETHA MEDICAL COLLEGE AND HOSPITAL   (India)

^l UNIVERSITY OF MONTREAL   (Canada)

^m Groupe Hospitalier de la Haute Saone   (France)

ⁿ ROYAL CHILDREN'S HOSPITAL   (Australia)

^o UNIVERSITY OF MELBOURNE   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; GLYCINE; ATP6V1B2 PROTEIN, HUMAN; KCNH1 PROTEIN, HUMAN; POTASSIUM CHANNEL HERG; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; STOP CODON;

ANIMAL CELL; ARTICLE; ATP6V1B2 GENE; CLINICAL ARTICLE; DEVELOPMENTAL DISORDER; GAIN OF FUNCTION MUTATION; GENE; GENETIC CODE; GENETIC HETEROGENEITY; HAPLOTYPE; HUMAN; KCNH1 GENE; MEMBRANE STEADY POTENTIAL; MEMBRANE STRUCTURE; MISSENSE MUTATION; NONHUMAN; PATCH CLAMP TECHNIQUE; PATHOGENESIS; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS; WILD TYPE; ZIMMERMANN LABAND SYNDROME; ANIMAL; CHEMICAL STRUCTURE; CHO CELL LINE; CRANIOFACIAL MALFORMATION; CRICETULUS; FEMALE; GENETIC ASSOCIATION; GENETICS; GINGIVA FIBROMATOSIS; HAMSTER; HAND MALFORMATION; MALE; MEMBRANE POTENTIAL; MULTIPLE MALFORMATION SYNDROME; PEDIGREE; PROTEIN CONFORMATION; STOP CODON; XENOPUS LAEVIS;

ABNORMALITIES, MULTIPLE; ANIMALS; CHO CELLS; CODON, NONSENSE; CRANIOFACIAL ABNORMALITIES; CRICETINAE; CRICETULUS; ETHER-A-GO-GO POTASSIUM CHANNELS; FEMALE; FIBROMATOSIS, GINGIVAL; GENETIC ASSOCIATION STUDIES; HAND DEFORMITIES, CONGENITAL; HUMANS; MALE; MEMBRANE POTENTIALS; MODELS, MOLECULAR; MUTATION, MISSENSE; PEDIGREE; PROTEIN CONFORMATION; VACUOLAR PROTON-TRANSLOCATING ATPASES; XENOPUS LAEVIS;

EID: 84930092141     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3282     Document Type: Article

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