Hailey-Hailey disease – Genetics Home Reference

Robert S. Hays

Behne MJ, Tu CL, Aronchik I, Epstein E, Bench G, Bikle DD, Pozzan T, Mauro TM. Human keratinocyte ATP2C1 localizes to the Golgi and controls Golgi Ca2+ suppliers. J Commit Dermatol. 2003 Oct121(four):688-ninety four. Burge SM. Hailey-Hailey condition: the clinical functions, reaction to treatment method and prognosis. Br J Dermatol. […]

Nonketotic hyperglycinemia – Genetics Home Reference

Robert S. Hays

Aliefendioğlu D, Tana Aslan Ay, Coşkun T, Dursun A, Cakmak FN, Kesimer M. Transient nonketotic hyperglycinemia: two circumstance experiences and literature review. Pediatr Neurol. 2003 Feb28(2):151-five. Evaluate. Applegarth DA, Toone JR. Glycine encephalopathy (nonketotic hyperglycinaemia) : review and update. J Inherit Metab Dis. 200427(three):417-22. Evaluate. Applegarth DA, Toone JR. Glycine […]

STAC3 disorder – Genetics Home Reference

Robert S. Hays

Campiglio M, Flucher BE. STAC3 stably interacts by means of its C1 area with Ca(V)1.1 in skeletal muscle mass triads. Sci Rep. 2017 Jan 237:41003. doi: ten.1038/srep41003. Campiglio M, Kaplan MM, Flucher BE. STAC3 incorporation into skeletal muscle mass triads happens unbiased of the dihydropyridine receptor. J Cell Physiol. 2018 […]

ADPEAF – Genetics Home Reference

Robert S. Hays

Autosomal dominant partial epilepsy with auditory functions (ADPEAF) is an uncommon type of epilepsy that operates in people. This problem brings about seizures normally characterized by seem-relevant (auditory) indications these kinds of as buzzing, humming, or ringing. Some people practical experience much more sophisticated appears for the duration of a […]

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