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Associated with low-penetrance Rb gene mutation and its features and significance of


b gene mutation spectrum and its characteristics and significance. The end of the Chinese Disease rats. 1995. 12 (4)-240-243.7KnudsonB. MutationandCancer | Statisticalstudyof Ⅲ _mobhstoma. pi-oCNatiAcadsciUSA. 1971.68 (4) '820-823 .8 QinXQ. ChittendenD, LivingstonD, eTB1. Idemifieadonofag ~ owthsuppressiond ~ malnwithintheretinoblsstomsgenepz ~ oduct. GenesandDevelOpment, 1992,6 (6) l955-964.9DunnJM. Ph Ⅱ Ii groan RA. ZhuX. et8I_Matado ~ intheRblgeneandtheireffectsontranscription. Mol0.1lBiol, 1989,9 (11) I4596-4604.10SakaiT. Ohtan [N, McGeeTH · et and 1. Oncogenic ~ rmlinemuratinnjinSPlandATFsitesinthehum ~ mretinobl ~ tomagene. Nature ,1991-353 (6339) I83-87.11KratzkeRA. OttersonGA, HoggA. eT. PartialinactivationoftheRBproductinfamilywithincompletepenetraneeof ~ millzlrednobinst ~ andbenignTumOzI. Oncogene · l994-9 (5) 13.2l a 1326. (Received t1997-06-27 Rod Head: l998-01 a lO) (This edit Liu Ping) five cases of liver glycogen accumulation disorder glycogen accumulation Wei meritorious relatively rare disease, the disease and juvenile cricket I glycogen storage disease . Midao 5 years back. Are as follows. 4 men down the clinical data. Female 1 down. October 9 in like 5 years old, Were admitted to hospital suffering from bronchial pneumonia. Surface damage in children with plump, stocky physique was Loi Ru state. Skin, sclera no yellow complex. Tongue shape, size to normal. As lack of heart. Belly bulge. Liver Xie issued 6-14cm. Smooth, quality and Side ravioli. No tenderness, a license is not touched. Thin limbs. Muscle relaxation. 5, has hit back over 5 ~ 1O suffering from bronchopulmonary Rotary pocket, a back room heard every lack of co-existence of intelligence unit area -530,Tory Burch outlet,700 Duan Guang Xi Ran the people of Pediatrics loss. No liver disease, yellow cancer history. Parent body and health. Non-kin marriage. An inverted male children of their sister (7 years) chunky body. Abdominal distension. Su Yu 4, no special history of back home. Blood tHb84 ~ ll8g / L, RBC2.94 ~ 4.12 × 10 / L, WB | c4. ~ 10.1 × 10g / L. Nn32 ~ 0.46, L0.48 ~ O. 68. Urine normal. Liver function: total protein 51 ~ 52g / L. Albumin 32 ~ 37g/L2 down, SGPT44 ~ 116U3 down. CH3.27 ~ 3-53mmo | / L. TG normal. Fasting plasma glucose 2.59 ~ 73mmol / L. Cable pilot training increases adrenal blood very emblem. co'cP6 .77 ~] 8mmol/L3 down,nike shoes sale, BuNz. 99 ~ 6.46mmol / L. UA384.4, ~ mol/L1 down. 4 to 15 days hospitalization. Basic cured pneumonia. 2 years of follow-up case report. 2 down with pneumonia died. Discussion is a congenital disorder of glycogen accumulation of enzymes break down the lack of training of the original glycogen metabolism caused by disease. An autosomal recessive disease. The early stage there is hepatomegaly. But the more significant because no other symptoms without treatment. EMU history became ill Jieyou recurrent pulmonary infection, then stay each visit is only the diagnosis of pneumonia. Fat body of special to attract attention,ray ban occhiali, ignoring the check signs of liver prominent ship. Si diagnosis of the disease so. Therefore, children with recurrent respiratory infections were, such as body 璺 obesity. The disease should be considered possible. For further diagnosis, by step missed. (Received :1997-08-25 rods back t1997-10-14) (This edit Liu Ping)
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