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1990, ISBN 0425119653, 338
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1994, 1st ed., ISBN 9780060171926, xv, 187
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Journal Article
Medicine, ISSN 0025-7974, 05/2019, Volume 98, Issue 21, pp. e15688 - e15688
At present, there are no effective methods for the treatment of hemophilia B, and it has high mortality and disability. Therefore, it is very important for the... 
Pregnancy | Genetic Testing | Exons | Humans | Adult | Female | Male | Hemophilia B - genetics | Mutation | Prenatal Diagnosis - methods | MEDICINE, GENERAL & INTERNAL | hemophilia B | novel mutation | F9 gene | genetic diagnosis | prenatal diagnosis | FACTOR-IX-GENE | IDENTIFICATION | DELETIONS
Journal Article
Medicine, ISSN 0025-7974, 10/2018, Volume 97, Issue 40, pp. e12591 - e12591
Journal Article
Meta Gene, ISSN 2214-5400, 09/2016, Volume 9, pp. 47 - 51
Gaucher disease is an autosomal recessive lysosomal storage disorder resulting from deficient glucocerebrosidase activity. More than 350 mutations that cause... 
Glucocerebrosidase | Gaucher disease | RFLP analysis | GBA novel mutations | Complex alleles | Sequence analysis | pJET cloning | PJET cloning
Journal Article
Blood Coagulation & Fibrinolysis, ISSN 0957-5235, 07/2019, Volume 30, Issue 5, pp. 233 - 238
In this study, we found a novel missense gene mutation of fibrinogen (FIB) and it will help us to understand the pathogenesis of this type of disease. The FIB... 
FGB | hypofibrinogenemia | genetic analysis | FIBRINOGEN DISORDERS | MANAGEMENT | novel mutation | HEMATOLOGY | FEATURES | Genetic aspects | Coagulation protein disorders | Research | Gene mutations
Journal Article