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01000naa a22002652 4500 |
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NLM224217321 |
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DE-627 |
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20231224062426.0 |
| 007 |
tu |
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231224s2012 xx ||||| 00| ||chi c |
| 028 |
5 |
2 |
|a pubmed24n0747.xml
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| 035 |
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|a (DE-627)NLM224217321
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| 035 |
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|a (NLM)23324143
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| 040 |
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|a DE-627
|b ger
|c DE-627
|e rakwb
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| 041 |
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|a chi
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| 100 |
1 |
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|a Guo, Mang-mang
|e verfasserin
|4 aut
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| 245 |
1 |
0 |
|a Analysis of HEPACAM mutations in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts
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| 264 |
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1 |
|c 2012
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| 336 |
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|a Text
|b txt
|2 rdacontent
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| 337 |
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|a ohne Hilfsmittel zu benutzen
|b n
|2 rdamedia
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| 338 |
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|a Band
|b nc
|2 rdacarrier
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| 500 |
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|a Date Completed 29.10.2013
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| 500 |
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|a Date Revised 07.12.2022
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| 500 |
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|a published: Print
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| 500 |
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|a Citation Status MEDLINE
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| 520 |
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|a OBJECTIVE: To explore HEPACAM mutations in a Chinese family with megalencephalic leukoencephaloptathy with subcortical cysts (MLC)
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| 520 |
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|a METHOD: Genomic DNA samples were extracted from peripheral blood of the proband and her parents. All exons and exon-intron boundaries of HEPACAM and MLC1 were amplified in the MLC family by polymerase chain reaction (PCR) followed by direct DNA sequencing
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| 520 |
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|a RESULT: Two heterozygous mutations of HEPACAM located in exon 2, c.203A > T(p.K68M) and c.395C > A(p.T132N), were identified in the proband. The proband's mother had the heterozygous mutations c.203A > T(p.K68M), and her father had the heterozygous mutation-c.395C > A(p.T132N). There was no variation found in MLC1 gene
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| 520 |
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|a CONCLUSION: The proband was heterozygous compound MLC patient carrying on one allele with the c.203A > T(p.K68M) mutation inherited from her mother, and the other allele with the c.395C > A(p.T132N) mutation inherited from her father. The parents both are heterozygous carriers with normal phenotype. The disease-causing gene for this family was resulted in HEPACAM mutation other than MLC1 mutation
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| 650 |
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4 |
|a Journal Article
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| 650 |
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4 |
|a Research Support, Non-U.S. Gov't
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| 650 |
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7 |
|a Cell Cycle Proteins
|2 NLM
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| 650 |
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7 |
|a HEPACAM protein, human
|2 NLM
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| 650 |
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7 |
|a MLC1 protein, human
|2 NLM
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| 650 |
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7 |
|a Membrane Proteins
|2 NLM
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| 650 |
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7 |
|a Proteins
|2 NLM
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| 700 |
1 |
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|a Jiang, Yu-wu
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Xie, Han
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Wu, Ye
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Shang, Jing
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Gu, Qiang
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Wu, Xi-ru
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Wang, Jing-min
|e verfasserin
|4 aut
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| 773 |
0 |
8 |
|i Enthalten in
|t Zhonghua er ke za zhi = Chinese journal of pediatrics
|d 1960
|g 50(2012), 12 vom: 16. Dez., Seite 895-8
|w (DE-627)NLM136249191
|x 0578-1310
|7 nnns
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| 773 |
1 |
8 |
|g volume:50
|g year:2012
|g number:12
|g day:16
|g month:12
|g pages:895-8
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| 912 |
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|a GBV_USEFLAG_A
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|a SYSFLAG_A
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|a GBV_ILN_11
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|a GBV_ILN_20
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| 912 |
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|a GBV_ILN_22
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|a GBV_ILN_24
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|a GBV_ILN_31
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|a GBV_ILN_40
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|a GBV_ILN_244
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|a AR
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| 952 |
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|d 50
|j 2012
|e 12
|b 16
|c 12
|h 895-8
|