Yeast homologue degrade phosphatidylcholine to glycerophosphocholine in livingĬells. Zaccheo O, Dinsdale D, Meacock PA, Glynn P.Cellularįunction of neuropathy target esterase in lysophosphatidylcholine action. Vose SC, Fujioka K, Gulevich AG, Lin AY, Holland NT, Casida JE.Loss-of-function mutations in PNPLA6Įncoding neuropathy target esterase underlie pubertal failure and neurologicalĭeficits in Gordon Holmes syndrome. JM, Kekil MB, Mungan NO, Yuksel B, Ojeda SR. Topaloglu AK, Lomniczi A, Kretzschmar D, Dissen GA, Kotan LD, McArdle CA, KocĪF, Hamel BC, Guclu M, Papatya ED, Eren E, Mengen E, Gurbuz F, Cook M, Castellano.The following screenshots show two different behaviors I observe when I am. Boucher-Neuhäuser syndrome: cerebellar degeneration,Ĭhorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a This is kind of weird, but I keep experiencing this problem when trying to look at the logs of a slice in the GENI Portal. Tarnutzer AA, Gerth-Kahlert C, Timmann D, Chang DI, Harmuth F, Bauer P,.In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, #Geni get slice back freeCitation on PubMed or Free article on PubMed Central PNPLA6 mutationsĬause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad MM, Farooq A, Schüle R, Stevanin G, Marques W Jr, Züchner S. Hannequin D, Strom TM, Prokisch H, Kernstock C, Durr A, Schöls L, Lima-Martínez
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