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| 11. |
Exclusion of an elastin gene (ELN) mutation as the cause of pseudoxanthoma elasticum (PXE) in one family |
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Clinical Genetics,
Volume 45,
Issue 1,
1994,
Page 48-51
M. C. Raybould,
A. J. Birley,
C. Moss,
M. Hultén,
C. M. E. McKeown,
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摘要:
An intragenic elastin Hint I polymorphism has been used to study the inheritance of elastin alleles in a family considered to show recessive inheritance of pseudoxanthoma elasticum (PXE). The marker has proved informative, excluding the elastin gene as a cause of PXE in this family. In addition, whole genomic human elastin clones were used in Southern analysis to screen the family for gross elastin gene rearrangements, but none were detected.
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1994.tb03990.x
出版商:Blackwell Publishing Ltd
年代:1994
数据来源: WILEY
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| 12. |
A new, highly informative Smal polymorphism in intron 7 of the low density lipoprotein receptor (LDLR) gene |
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Clinical Genetics,
Volume 45,
Issue 1,
1994,
Page 52-53
L. G. Jensen,
H. K. Jensen,
M. Kjeldsen,
L. U. Gerdes,
P. S. Hansen,
O. Faergeman,
S. Kolvraa,
L. Bolund,
N. Gregersen,
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PDF (132KB)
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ISSN:0009-9163
DOI:10.1111/j.1399-0004.1994.tb03991.x
出版商:Blackwell Publishing Ltd
年代:1994
数据来源: WILEY
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| 13. |
A rare silent C to T mutation in exon 7 of the low density lipoprotein receptor (LDLR) gene |
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Clinical Genetics,
Volume 45,
Issue 1,
1994,
Page 54-55
H. K. Jensen,
L. G. Jensen,
P. S. Hansen,
M. Kjeldsen,
L. U. Gerdes,
L. Bolund,
O. Faergeman,
N. Gregersen,
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PDF (146KB)
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ISSN:0009-9163
DOI:10.1111/j.1399-0004.1994.tb03992.x
出版商:Blackwell Publishing Ltd
年代:1994
数据来源: WILEY
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| 14. |
Announcements |
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Clinical Genetics,
Volume 45,
Issue 1,
1994,
Page 56-56
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PDF (89KB)
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ISSN:0009-9163
DOI:10.1111/j.1399-0004.1994.tb03993.x
出版商:Blackwell Publishing Ltd
年代:1994
数据来源: WILEY
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Volume 45 issue 1