Usefulness of anin vitrocellular expression model for haemophilia A carrier diagnosis: illustration with five novel mutations in theF8gene in women with isolated factor VIII:C deficiency

Haemophilia ◽  
2015 ◽  
Vol 21 (3) ◽  
pp. e202-e209 ◽  
Author(s):  
O. Roualdes ◽  
C. Nougier ◽  
M. Fretigny ◽  
E. Talagrand ◽  
B. Durand ◽  
...  
Keyword(s):  
Haemophilia A ◽  
Novel Mutations ◽  
Expression Model ◽  
Carrier Diagnosis

Mutation characteristic of 103 haemophilia A patients in Vietnam: Identification of novel mutations

Haemophilia ◽  
2019 ◽  
Author(s):  
Dung Vu Luu ◽  
Thinh Huy Tran ◽  
Duc Hinh Nguyen ◽  
Long Hoang Luong ◽  
Huong Thu Thi Bui ◽  
...  
Keyword(s):  
Haemophilia A ◽  
Novel Mutations

Study of mutations in Jordanian patients with haemophilia A: identification of five novel mutations

Haemophilia ◽  
2010 ◽  
Vol 16 (1) ◽  
pp. 136-142 ◽  
Author(s):  
A. AWIDI ◽  
M. RAMAHI ◽  
D. AlHATTAB ◽  
R. MEFLEH ◽  
M. DWEIRI ◽  
...  
Keyword(s):  
Haemophilia A ◽  
Novel Mutations

Molecular pathology of haemophilia A in Indian patients: Identification of 11 novel mutations

2010 ◽  
Vol 411 (23-24) ◽  
pp. 2004-2008 ◽  
Author(s):  
Preethi Satish Nair ◽  
Shrimati Shetty ◽  
Bipin Kulkarni ◽  
Kanjaksha Ghosh
Keyword(s):  
Molecular Pathology ◽  
Haemophilia A ◽  
Novel Mutations ◽  
Indian Patients

First report of two independent point factor VIII mutations in a family with haemophilia A: a word of caution for carrier diagnosis

2005 ◽  
Vol 94 (09) ◽  
pp. 675-677 ◽  
Author(s):  
Adoración Venceslá ◽  
Manel Baena ◽  
Mónica Cornet ◽  
María T. Calvo ◽  
José F. Lucía ◽  
...  
Keyword(s):  
Factor Viii ◽  
Haemophilia A ◽  
Independent Point ◽  
First Report ◽  
Carrier Diagnosis

Utility of a (GT)n dinucleotide repeat in intron 1 of the factor 8 gene for haemophilia A carrier diagnosis

Haemophilia ◽  
2005 ◽  
Vol 11 (2) ◽  
pp. 142-144 ◽  
Author(s):  
E. Tizzano ◽  
A. Vencesla ◽  
M. Cornet ◽  
M. Baena ◽  
M. Baiget
Keyword(s):  
Dinucleotide Repeat ◽  
Haemophilia A ◽  
Intron 1 ◽  
Carrier Diagnosis

Spectrum of mutations in Albanian patients with haemophilia A: identification of ten novel mutations in the factor VIII gene

Haemophilia ◽  
2007 ◽  
Vol 13 (3) ◽  
pp. 311-316 ◽  
Author(s):  
G. CASTAMAN ◽  
S. H. GIACOMELLI ◽  
R. GHIOTTO ◽  
C. BOSEGGIA ◽  
K. POJANI ◽  
...  
Keyword(s):  
Factor Viii ◽  
Haemophilia A ◽  
Factor Viii Gene ◽  
Novel Mutations

Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients

2015 ◽  
Vol 135 (5) ◽  
pp. 1031-1034 ◽  
Author(s):  
Rosa Santacroce ◽  
Angelica Leccese ◽  
Roberta Trunzo ◽  
Giuseppe Lassandro ◽  
Paola Giordano ◽  
...  
Keyword(s):  
Factor Viii ◽  
Haemophilia A ◽  
Factor Viii Gene ◽  
Novel Mutations
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