A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree

European Journal of Human Genetics

Volumn 21, Issue 6, 2013, Pages 613-619

  Marconi, Caterina ^a   Binello, Paolo Brunamonti ^b   Badiali, Giovanni ^a   Caci, Emanuela ^c   Cusano, Roberto ^d,e   Garibaldi, Joseph ^f   Pippucci, Tommaso ^a   Merlini, Alberto ^b   Marchetti, Claudio ^a   Rhoden, Kerry J ^a   Galietta, Luis J V ^c   Lalatta, Faustina ^g   Balbi, Paolo ^b   Seri, Marco ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b GALLIERA HOSPITAL   (Italy)

^c G GASLINI INSTITUTE   (Italy)

^d Milan Unit   (Italy)

^e Laboratorio di Genomica   (Italy)

^f Libero professionista   (Italy)

^g FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

anoctamin 5; calcium activated chloride channel; gnathodiaphyseal dysplasia; jawbone disease

Indexed keywords

ANOCTAMIN 5; CALCIUM ACTIVATED CHLORIDE CHANNEL; UNCLASSIFIED DRUG; ANION; ANO5 PROTEIN, HUMAN; CALCIUM; CHLORIDE CHANNEL;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; DNA POLYMORPHISM; DYSPLASIA; GENE FUNCTION; GNATHODIAPHYSEAL DYSPLASIA; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MULTIGENE FAMILY; MUSCULAR DYSTROPHY; PRIORITY JOURNAL; AMINO ACID SEQUENCE; CELL STRAIN HEK293; CHEMISTRY; FAMILY; FEMALE; GENETICS; ITALY; MALE; METABOLISM; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; OSTEOGENESIS IMPERFECTA; PEDIGREE; PHENOTYPE; RADIOGRAPHY; SEQUENCE ALIGNMENT; TRANSPORT AT THE CELLULAR LEVEL;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; ANIONS; BASE SEQUENCE; BIOLOGICAL TRANSPORT; CALCIUM; CHLORIDE CHANNELS; FAMILY; FEMALE; HEK293 CELLS; HUMANS; ITALY; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OSTEOGENESIS IMPERFECTA; PEDIGREE; PHENOTYPE; SEQUENCE ALIGNMENT;

EID: 84886939212     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.224     Document Type: Article

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