A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

التفاصيل البيبلوغرافية
العنوان:	A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
المؤلفون:	Ferreira, CR, Xia, ZJ, Clement, A, Parry, DA, Davids, M, Taylan, F, Sharma, P, Turgeon, CT, Blanco-Sanchez, B, Ng, BG, Logan, CV, Wolfe, LA, Solomon, BD, Cho, MT, Douglas, G, Carvalho, DR, Bratke, H, Haug, MG, Phillips, JB, Wegner, J, Tiemeyer, M, Aoki, K, Nordgren, A, Hammarsjo, A, Duker, AL, Rohena, L, Hove, HB, Ek, J, Adams, D, Tifft, CJ, Onyekweli, T, Weixel, T, Macnamara, E, Radtke, K, Powis, Z, Earl, D, Gabriel, M, Russi, AHS, Brick, L, Kozenko, M, Tham, E, Raymond, KM, Phillips, JA, Tiller, GE, Wilson, WG, Hamid, R, Malicdan, MCV, Nishimura, G, Grigelioniene, G, Jackson, A, Westerfield, M, Bober, MB, Gahl, WA, Freeze, HH
المصدر:	American journal of human genetics. 103(4):553-567
مصطلحات موضوعية:	Medicin och hälsovetenskap
الوصول الحر:	http://kipublications.ki.se/Default.aspx?queryparsed=id:139252419Test
قاعدة البيانات:	SwePub

الوصف
تدمد:	15376605
DOI:	10.1016/j.ajhg.2018.09.003