scholarly journals Mutation analysis in the F8 gene in 485 families with haemophilia A and prenatal diagnosis in China

Haemophilia ◽  
2020 ◽  
Author(s):  
Yin Feng ◽  
Qianqian Li ◽  
Panlai Shi ◽  
Ning Liu ◽  
Xiangdong Kong ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Mutation Analysis ◽  
Haemophilia A

Determination of haemophilia A carrier status by mutation analysis

Haemophilia ◽  
2001 ◽  
Vol 7 (1) ◽  
pp. 20-25 ◽  
Author(s):  
S. Oranwiroon ◽  
V. Akkarapatumwong ◽  
P. Pung-Amritt ◽  
A. Treesucon ◽  
G. Veerakul ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Carrier Status ◽  
Haemophilia A

scholarly journals Mutation Analysis for Heterozygote Detection and the Prenatal Diagnosis of Cystic Fibrosis

1990 ◽  
Vol 322 (5) ◽  
pp. 291-296 ◽  
Author(s):  
Wanda K. Lemna ◽  
Gerald L. Feldman ◽  
Bat-sheva Kerem ◽  
Susan D. Fernbach ◽  
Elaine P. Zevkovich ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Prenatal Diagnosis ◽  
Mutation Analysis ◽  
Heterozygote Detection

scholarly journals Inversions in the factor VIII gene: improvement of carrier detection and prenatal diagnosis in Dutch haemophilia A families.

1995 ◽  
Vol 32 (4) ◽  
pp. 296-300 ◽  
Author(s):  
P P Deutz-Terlouw ◽  
M Losekoot ◽  
R Olmer ◽  
W C Pieneman ◽  
S de Vries-v d Weerd ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Factor Viii ◽  
Carrier Detection ◽  
Haemophilia A ◽  
Factor Viii Gene

PRENATAL DIAGNOSIS OF HAEMOPHILIA A BY FACTOR VIII GENE ANALYSIS

The Lancet ◽  
1985 ◽  
Vol 325 (8443) ◽  
pp. 1407-1409 ◽  
Author(s):  
StylianosE Antonarakis ◽  
KarenL Copeland ◽  
RobertJ Carpenter ◽  
CarlA Carta ◽  
LeonW Hoyer ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Factor Viii ◽  
Gene Analysis ◽  
Haemophilia A ◽  
Factor Viii Gene

Requiem to prenatal diagnosis of haemophilia A and B using coagulation activity and antigen based assays: not yet!

2003 ◽  
Vol 70 (4) ◽  
pp. 253-254 ◽  
Author(s):  
Shrimati Shetty ◽  
Kanjaksha Ghosh ◽  
Shankar Anbhavne ◽  
Dipika Mohanty
Keyword(s):  
Prenatal Diagnosis ◽  
Haemophilia A ◽  
Coagulation Activity

Prenatal diagnosis in Coffin-Lowry syndrome demonstrates germinal mosaicism confirmed by mutation analysis

2001 ◽  
Vol 21 (10) ◽  
pp. 881-884 ◽  
Author(s):  
Denise Horn ◽  
Jean-Pierre Delaunoy ◽  
J�rgen Kunze
Keyword(s):  
Prenatal Diagnosis ◽  
Mutation Analysis ◽  
Germinal Mosaicism

Masking of the clinical severity of severe haemophilia A in a patient with ?-thalassemia major?its implications in prenatal diagnosis

2004 ◽  
Vol 24 (11) ◽  
pp. 925-926 ◽  
Author(s):  
Roshan Colah ◽  
Shrimati Shetty ◽  
Anita Nadkarni ◽  
Kanjaksha Ghosh ◽  
Dipika Mohanty
Keyword(s):  
Prenatal Diagnosis ◽  
Thalassemia Major ◽  
Clinical Severity ◽  
Haemophilia A ◽  
Severe Haemophilia
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