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A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine

Hereditary sensorineural hearing loss is an extremely clinical and genetic heterogeneous disorder in humans. Especially, syndromic hearing loss is subdivided by combinations of various phenotypes, and each subtype is related to different genes. We present a new form of progressive hearing loss with...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Eur J Hum Genet
Κύριοι συγγραφείς: Oh, Se-Kyung, Baek, Jeong-In, Weigand, Karl M, Venselaar, Hanka, Swarts, Herman G P, Park, Seong-Hyun, Hashim Raza, Muhammad, Jung, Da Jung, Choi, Soo-Young, Lee, Sang-Heun, Friedrich, Thomas, Vriend, Gert, Koenderink, Jan B, Kim, Un-Kyung, Lee, Kyu-Yup
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Nature Publishing Group 2015
Θέματα:
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4402630/
https://ncbi.nlm.nih.gov/pubmed/25138102
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.154
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