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USMLE-Step 1 Fi a 7 Atyearot gis brought ote ofice fora spots physical before he school year begins. Sha 71 nce tality lang ais ngs, which hips her become a good besktbal payer Her far als tal wt ong exrematis and ners She hasbeen n good hes troughout erie (On examnation sha has a murmur cansstert ih meal vave prlapse Her patemal randmethe, who was ase vey tal, id fem compestons ot ‘dated sot root “This pent mostly has a mutton n whic ofthe otowing? (A) Fain © (8) Floblast grt factor ceptor 3 ©(C) Low dnsty Hpoprotein ceptor . (0) Ft gene ©(E) NF2 gene USMLE-Step 1 a 7 |A2.and.s year-old mates seen nthe cic for @ eatin checkup. The paints known to hav a saasoimling protin metatesm He has ‘hour no gtomth inte past 8 months. Hes severely cavotemertaly delayed Ho has course facia fetes and ginal ypertopty He has & noteeabe ules emia Range c maton appears imtedin ais etrames ae he moves Chey eeaste the patents chart descbs ‘hybiests wih signifleant vscolzaton the clplasm, as Soon byelection microscopy ‘This pants disease is caused by an err thats best described by which ofthe flling? ©(A). yeabogfation ©(B) Gycosylaton >»(C) Mannose phosphertion ©(D)_ Posttanslation mofcation : >(E)Uutnaton 2 Show /Hio Explanation USMLE-Step 1 a 7 Ata yoar gst students vestgting cystic xo, Hs fst stp is to nvestga the diferent genetc musts between boh fected patents and non afected india He ects DNA fer wits Blood cels He hen runs four rent PCR reachns. Esch reacbn conta & ral amount ef atferantcdeonymucee seis each tube Each rection stan ru an @ gel and bande ae vsuakeed He rca hs erro he bands on the ge ‘ine oe fotowng teria described above? © (A) Fhusesconcein stu hybriteaten (8) Kanoype (6) Micoaray ©(0) Sanger sequencing ©(E) Souther bet ERP re ‘Sow / de Explanation 20

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