PENDRED SYNDROME; PDS

Literature (4)

Literature for OMIM 274600: PENDRED SYNDROME; PDS

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Coupling modes and stoichiometry of Cl-/HCO3- exchange by slc26a3 and slc26a6., Shcheynikov N,Wang Y,Park M,Ko SB,Dorwart M,Naruse S,Thomas PJ,Muallem S, J Gen Physiol. May 1, 2006; 127(5):1540-7748.
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations., Bockenhauer D,Feather S,Stanescu HC,Bandulik S,Zdebik AA,Reichold M,Tobin J,Lieberer E,Sterner C,Landoure G,Arora R,Sirimanna T,Thompson D,Cross JH,van't Hoff W,Al Masri O,Tullus K,Yeung S,Anikster Y,Klootwijk E,Hubank M,Dillon MJ,Heitzmann D,Arcos-Burgos M,Knepper MA,Dobbie A,Gahl WA,Warth R,Sheridan E,Kleta R, N Engl J Med. May 7, 2009; 360(19):1533-4406.
Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome., Yang T,Gurrola JG,Wu H,Chiu SM,Wangemann P,Snyder PM,Smith RJ, Am J Hum Genet. May 1, 2009; 84(5):1537-6605.
Functional analysis of nonsynonymous single nucleotide polymorphisms in human SLC26A9., Chen AP,Chang MH,Romero MF, Hum Mutat. August 1, 2012; 33(8):1098-1004.

Coupling modes and stoichiometry of Cl-/HCO3- exchange by slc26a3 and slc26a6., Shcheynikov N,Wang Y,Park M,Ko SB,Dorwart M,Naruse S,Thomas PJ,Muallem S, J Gen Physiol. May 1, 2006; 127(5):1540-7748.

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations., Bockenhauer D,Feather S,Stanescu HC,Bandulik S,Zdebik AA,Reichold M,Tobin J,Lieberer E,Sterner C,Landoure G,Arora R,Sirimanna T,Thompson D,Cross JH,van't Hoff W,Al Masri O,Tullus K,Yeung S,Anikster Y,Klootwijk E,Hubank M,Dillon MJ,Heitzmann D,Arcos-Burgos M,Knepper MA,Dobbie A,Gahl WA,Warth R,Sheridan E,Kleta R, N Engl J Med. May 7, 2009; 360(19):1533-4406.

Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome., Yang T,Gurrola JG,Wu H,Chiu SM,Wangemann P,Snyder PM,Smith RJ, Am J Hum Genet. May 1, 2009; 84(5):1537-6605.

Functional analysis of nonsynonymous single nucleotide polymorphisms in human SLC26A9., Chen AP,Chang MH,Romero MF, Hum Mutat. August 1, 2012; 33(8):1098-1004.