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Inversion Mutation Abnormality
Known as:
Inversion
, Inversion Mutation
A structural change in genomic DNA where the 5' to 3' order of a nucleotide sequence is completely reversed to the 3' to 5' order relative to its…
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National Institutes of Health
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Related topics
Related topics
1 relation
Chromosome inversion
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Wykrywanie mutacji inwersyjnych (INV22 oraz INV1) w genie F8 metodą IS-PCR u polskich chorych na ciężką hemofilię A
E. Odnoczko
,
E. Stefańska-Windyga
,
+4 authors
J. Windyga
2015
Corpus ID: 70370145
2009
2009
Profiling of factor VIII mutations in Korean haemophilia A
Su‐Jeong Hwang
,
Myung-Chul Kim
,
Jeong-A Lim
,
Hugh C. Kim
,
Hyuna Kim
Haemophilia
2009
Corpus ID: 10126045
Summary. Haemophilia A (HA) is an X chromosome‐linked inherited bleeding disorder caused by heterogeneous mutations of…
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2006
2006
Intron 1 inversion mutation among Turkish hemophilia A patients.
İ. D. Fidancı
,
T. Aydoğdu
,
H. Caglayan
Turkish journal of haematology : official journal…
2006
Corpus ID: 29024010
Hemophilia A is an X-linked bleeding disorder resulting mostly from heterogeneous point mutations in the factor VIII (F8) gene…
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2004
2004
DNA sequence alterations affect nucleosome array formation of the chicken ovalbumin gene.
Alfred Cioffi
,
Y. Dalal
,
A. Stein
Biochemistry
2004
Corpus ID: 9817244
The role of the large amount (more than half of the genome) of noncoding DNA in higher organisms is not well understood. DNA…
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2000
2000
Factor VIII gene polymorphisms in the Asian Indian population
M. Chowdhury
,
F. Herrmann
,
+7 authors
I. Verma
Haemophilia
2000
Corpus ID: 36877249
Little is known about the heterozygous frequency of factor VIII gene markers in the Asian Indian population. The objective of…
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1999
1999
Intron 22 inversions in the Turkish haemophilia A patients: prevalence and haplotype analysis
O. El-Maarri
,
K. Kavaklı
,
S. Caglayan
Haemophilia
1999
Corpus ID: 1264645
In about half of the severe haemophilia A cases, the disease is caused by an inversion that split the F.VIII gene into two parts…
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1996
1996
A novel deletion/inversion mutation in the low‐density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia
U. Koivisto
,
K. Kontula
Human Mutation
1996
Corpus ID: 35783369
A combined deletion/inversion rearrangement of the LDL receptor gene was discovered in a Finnish patient with heterozygous…
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1995
1995
Severe haemophilia A in a female resulting from two de novo factor VIII mutations
S. Windsor
,
Ann Lyng
,
S. Taylor
,
B. Ewenstein
,
E. Neufeld
,
D. Lillicrap
British Journal of Haematology
1995
Corpus ID: 20562368
Summary. A 2‐year‐old girl is described with severe haemophilia A (factor VIII: C <0‐01 units/ml). Both of her parents were…
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1995
1995
Genetic diagnosis of haemophilia A of Chinese origin
Shu‐Rung Lin
,
Shu-Chuan Chang
,
Chia‐Cheng Lee
,
M. Shen
,
Shu-Wha Lin
British Journal of Haematology
1995
Corpus ID: 22265037
Summary. Genetic diagnosis of haemophilia A has been studied in two aspects. One is to directly identify the mutations in the…
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1994
1994
Direct detection of a common inversion mutation in the genetic diagnosis of severe hemophilia A.
S. Windsor
,
S. Taylor
,
D. Lillicrap
Blood
1994
Corpus ID: 26658137
Two recent reports suggest that approximately 50% of the cases of severe hemophilia A (factor VIII:C < 0.01 U/mL) may be caused…
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