Abstract
The study of mutations in the factor VIII gene that cause hemophilia A has provided new insights into the variety and nature of mutations in man. These new insights are the relative susceptibility of CpG dinucleotides to mutation and the observation of insertions of LINE repetitive elements via retrotransposition, Using DNA polymorphisms for indirect detection of defective factor VIII genes, accurate prenatal diagnosis and carrier detection can now be performed in most families with hemophilia A.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 233-237 |
| Number of pages | 5 |
| Journal | Trends in Genetics |
| Volume | 4 |
| Issue number | 8 |
| DOIs | |
| State | Published - 1988 |
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ASJC Scopus subject areas
- Genetics
Cite this
The molecular basis of hemophilia A in man. / Antonarakis, Stylianos E.; Kazazian, Haig.
In: Trends in Genetics, Vol. 4, No. 8, 1988, p. 233-237.Research output: Contribution to journal › Review article
}
TY - JOUR
T1 - The molecular basis of hemophilia A in man
AU - Antonarakis, Stylianos E.
AU - Kazazian, Haig
PY - 1988
Y1 - 1988
N2 - The study of mutations in the factor VIII gene that cause hemophilia A has provided new insights into the variety and nature of mutations in man. These new insights are the relative susceptibility of CpG dinucleotides to mutation and the observation of insertions of LINE repetitive elements via retrotransposition, Using DNA polymorphisms for indirect detection of defective factor VIII genes, accurate prenatal diagnosis and carrier detection can now be performed in most families with hemophilia A.
AB - The study of mutations in the factor VIII gene that cause hemophilia A has provided new insights into the variety and nature of mutations in man. These new insights are the relative susceptibility of CpG dinucleotides to mutation and the observation of insertions of LINE repetitive elements via retrotransposition, Using DNA polymorphisms for indirect detection of defective factor VIII genes, accurate prenatal diagnosis and carrier detection can now be performed in most families with hemophilia A.
UR - http://www.scopus.com/inward/record.url?scp=0023696470&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0023696470&partnerID=8YFLogxK
U2 - 10.1016/0168-9525(88)90156-4
DO - 10.1016/0168-9525(88)90156-4
M3 - Review article
C2 - 3149806
AN - SCOPUS:0023696470
VL - 4
SP - 233
EP - 237
JO - Trends in Genetics
JF - Trends in Genetics
SN - 0168-9525
IS - 8
ER -