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Journal Article
International Journal of Cardiology, ISSN 0167-5273, 2012, Volume 168, Issue 1, pp. 76 - 79
Journal Article
Bone, ISSN 8756-3282, 03/2019, Volume 120, pp. 432 - 438
Anoctamin 5 (Ano5) mutations are responsible for gnathodiaphyseal dysplasia, a rare skeletal syndrome. Despite the close linkage of Ano5 to bone remodeling,... 
Osteoblast | Osteoclast | Anoctamin 5 | Gnathodiaphyseal dysplasia | PROTEIN | OSTEOIMMUNOLOGY | NFATC1 | GDD1 | ANO5 | IMMUNE | MUTATION | ENDOCRINOLOGY & METABOLISM | EXPRESSION | BINDING | TMEM16E
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 02/2018, Volume 115, Issue 7, pp. E1667 - E1674
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2010, Volume 86, Issue 2, pp. 213 - 221
Journal Article
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 09/2018, Volume 503, Issue 3, pp. 1710 - 1715
Anoctamin 1 (encoded by the gene) is a Ca -activated Cl channel critical to many physiological functions. It has been speculated that expression is regulated... 
Promoter | Variant | 5-RACE | Translation initiation site | Anoctamin 1 | CELLS | ACTIVATION | MECHANISM | BIOCHEMISTRY & MOLECULAR BIOLOGY | TMEM16A CHLORIDE CHANNEL | SALIVARY-GLAND | BIOPHYSICS | CALCIUM | Index Medicus
Journal Article
Human Mutation, ISSN 1059-7794, 08/2013, Volume 34, Issue 8, pp. 1111 - 1118
Journal Article
Muscle & Nerve, ISSN 0148-639X, 12/2017, Volume 56, Issue 6, pp. 1096 - 1100
Journal Article
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2013, Volume 24, Issue 1, pp. 43 - 47
Abstract We report a 45 year-old patient with an asymmetrical proximal muscle weakness affecting the quadriceps muscle of the right leg starting at the age of... 
Neurology | Anoctamin 5 | Mutation | Exon skipping | Silent mutation | Dysferlin | PROTEIN | MYOPATHY | NEUROSCIENCES | CLINICAL NEUROLOGY | FEATURES | GENE | DATABASE | ANO5 MUTATIONS | Exons | Humans | Middle Aged | Male | Muscular Dystrophies - diagnosis | Anoctamins | Chloride Channels - genetics | Muscular Dystrophies - genetics | Analysis | Genetic aspects | Muscular dystrophy | Index Medicus
Journal Article
NERVENARZT, ISSN 0028-2804, 12/2011, Volume 82, Issue 12, pp. 1596 - 1596
Journal Article