Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimesterARG1 mutation analysis

2004 ◽  
Vol 24 (11) ◽  
pp. 857-860 ◽  
Author(s):  
Stanley H. Korman ◽  
Alisa Gutman ◽  
Edia Stemmer ◽  
Barrie S. Kay ◽  
Ziva Ben-Neriah ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Mutation Analysis ◽  
Second Trimester ◽  
Arginase Deficiency

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 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

Second trimester prenatal diagnosis of the fragile X

1986 ◽  
Vol 23 (1-2) ◽  
pp. 313-324 ◽  
Author(s):  
Niels Tommerup ◽  
Pertti Aula ◽  
Björn Gustavii ◽  
Arvid Heiberg ◽  
Gösta Holmgren ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Fragile X ◽  
Second Trimester
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