Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource, 1 online resource.

Language: Englisch

Bibliographic citation: Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome ; volume:18 ; number:1 ; day:11 ; month:4 ; year:2023 ; pages:1-10 ; date:12.2023
Orphanet journal of rare diseases ; 18, Heft 1 (11.4.2023), 1-10, 12.2023

Creator: Polokhov, Dmitrii
Fedorova, Daria
Ignatova, Anastasiya
Ponomarenko, Evgeniya
Rashevskaya, Elena
Martyanov, Alexey
Podoplelova, Nadezhda
Aleksenko, Maxim
Mersiyanova, Irina
Seregina, Elena
Poletaev, Aleksandr
Truchina, Ekaterina
Raykina, Elena
Plyasunova, Svetlana
Novichkova, Galina
Zharkov, Pavel
Panteleev, Mikhail

Contributor: SpringerLink (Online service)

DOI: 10.1186/s13023-023-02675-9

URN: urn:nbn:de:101:1-2023082521102000947336

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:59 AM CEST

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Associated

Polokhov, Dmitrii
Fedorova, Daria
Ignatova, Anastasiya
Ponomarenko, Evgeniya
Rashevskaya, Elena
Martyanov, Alexey
Podoplelova, Nadezhda
Aleksenko, Maxim
Mersiyanova, Irina
Seregina, Elena
Poletaev, Aleksandr
Truchina, Ekaterina
Raykina, Elena
Plyasunova, Svetlana
Novichkova, Galina
Zharkov, Pavel
Panteleev, Mikhail
SpringerLink (Online service)

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Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome

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Other Objects (12)

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A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome

Sequel and therapeutic modalities of leptospirosis associated severe pulmonary haemorrhagic syndrome (SPHS); a Sri Lankan experience

Life expextancy of parents with Hereditary Haemorrhagic Telangiectasia

Severe congenital microcephaly with AP4M1 mutation, a case report

Severe, chronic cough caused by pulmonary arteriovenous malformations in a patient with hereditary haemorrhagic telangiectasia: case report

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Skeletal muscle oxygenation in severe trauma patients during haemorrhagic shock resuscitation

Severe restless legs syndrome in a family with Alport syndrome

McCune albright syndrome with severe facial disfigurement

Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder

Continuous renal replacement therapy rescues severe haemorrhagic fever with renal syndrome in pregnancy: a case report

A Patient with Noonan Syndrome with a KRAS Mutation Who Presented Severe Nerve Root Hypertrophy

A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome

Sequel and therapeutic modalities of leptospirosis associated severe pulmonary haemorrhagic syndrome (SPHS); a Sri Lankan experience

Life expextancy of parents with Hereditary Haemorrhagic Telangiectasia

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Severe, chronic cough caused by pulmonary arteriovenous malformations in a patient with hereditary haemorrhagic telangiectasia: case report

Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement

Skeletal muscle oxygenation in severe trauma patients during haemorrhagic shock resuscitation

Severe restless legs syndrome in a family with Alport syndrome

McCune albright syndrome with severe facial disfigurement

Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder

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