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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… 
National Institutes of Health

Related topics

Related topics

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Chromosome inversion

Papers overview

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2015
2015
Wykrywanie mutacji inwersyjnych (INV22 oraz INV1) w genie F8 metodą IS-PCR u polskich chorych na ciężką hemofilię A
2009
2009
Profiling of factor VIII mutations in Korean haemophilia A
Summary.  Haemophilia A (HA) is an X chromosome‐linked inherited bleeding disorder caused by heterogeneous mutations of… 
2006
2006
Intron 1 inversion mutation among Turkish hemophilia A patients.
Hemophilia A is an X-linked bleeding disorder resulting mostly from heterogeneous point mutations in the factor VIII (F8) gene… 
2004
2004
DNA sequence alterations affect nucleosome array formation of the chicken ovalbumin gene.
The role of the large amount (more than half of the genome) of noncoding DNA in higher organisms is not well understood. DNA… 
2000
2000
Factor VIII gene polymorphisms in the Asian Indian population
Little is known about the heterozygous frequency of factor VIII gene markers in the Asian Indian population. The objective of… 
1999
1999
Intron 22 inversions in the Turkish haemophilia A patients: prevalence and haplotype analysis
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… 
1996
1996
A novel deletion/inversion mutation in the low‐density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia
A combined deletion/inversion rearrangement of the LDL receptor gene was discovered in a Finnish patient with heterozygous… 
1995
1995
Severe haemophilia A in a female resulting from two de novo factor VIII mutations
Summary. A 2‐year‐old girl is described with severe haemophilia A (factor VIII: C <0‐01 units/ml). Both of her parents were… 
1995
1995
Genetic diagnosis of haemophilia A of Chinese origin
Summary. Genetic diagnosis of haemophilia A has been studied in two aspects. One is to directly identify the mutations in the… 
1994
1994
Direct detection of a common inversion mutation in the genetic diagnosis of severe hemophilia A.
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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