Publications:

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

Haemophilia : The Official Journal Of The World Federation Of Hemophilia

Feng, Yin Y; Li, Qianqian Q; Shi, Panlai P; Liu, Ning N; Kong, Xiangdong X; Guo, Ruixia R

Publication Date: 2021-01

Variant appearance in text: F8: 3325C>T; Gln1109Ter

PubMed Link: 33245802

Variant Present in the following documents:

View BVdb publication page

Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders.

Plos One

Kovács, Gábor G; Kalmár, Tibor T; Endreffy, Emőke E; Ondrik, Zoltán Z; Iványi, Béla B; Rikker, Csaba C; Haszon, Ibolya I; Túri, Sándor S; Sinkó, Mária M; Bereczki, Csaba C; Maróti, Zoltán Z

Publication Date: 2016

Variant appearance in text: F8: 3325C>T

PubMed Link: 26934356

Variant Present in the following documents:

• Main text
• pone.0149241.pdf

View BVdb publication page

Identification of novel mutations in exon 14 of the f8 gene in malaysian patients with severe hemophilia a.

Indian Journal Of Clinical Biochemistry : Ijcb

Moses, Emmanuel Jairaj EJ; Ling, Sim Pei SP; Al-Hassan, Faisal Muti FM; Karim, Faraizah Abdul FA; Yusoff, Narazah Mohd NM

Publication Date: 2012-04

Variant appearance in text: FVIII: Gln1109X

PubMed Link: 23543988

Variant Present in the following documents:

• Main text

View BVdb publication page