Publications:

Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.

Journal Of Clinical Medicine

Preisler, Barbara B; Pezeshkpoor, Behnaz B; Banchev, Atanas A; Fischer, Ronald R; Zieger, Barbara B; Scholz, Ute U; Rühl, Heiko H; Kemkes-Matthes, Bettina B; Schmitt, Ursula U; Redlich, Antje A; Unal, Sule S; Laws, Hans-Jürgen HJ; Olivieri, Martin M; Oldenburg, Johannes J; Pavlova, Anna A

Publication Date: 2021-01-18

Variant appearance in text: F2: Gly591Ser

PubMed Link: 33477601

Variant Present in the following documents:

• jcm-10-00347.pdf

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Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique.

Bmc Medical Genetics

Sadick, Haneen H; Hage, Johanna J; Goessler, Ulrich U; Stern-Straeter, Jens J; Riedel, Frank F; Hoermann, Karl K; Bugert, Peter P

Publication Date: 2009-06-09

Variant appearance in text: F2: 1771G>A

PubMed Link: 19508727

Variant Present in the following documents:

View BVdb publication page