Literature DB >> 35091978

A Pitfall of Whole Exome Sequencing: Variants in the 5'UTR Splice Site of BTK Causing XLA.

Sanami Takada1, Ingrid Pico-Knijnenburg1, Malgorzata Pac2, Adilia Warris3, Mirjam van der Burg4.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2022        PMID： 35091978     DOI： 10.1007/s10875-021-01198-x

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


× No keyword cloud information.
  4 in total

1.  Composition of precursor B-cell compartment in bone marrow from patients with X-linked agammaglobulinemia compared with healthy children.

Authors:  Jeroen G Noordzij; Sandra de Bruin-Versteeg; W Marieke Comans-Bitter; Nico G Hartwig; Rudolf W Hendriks; Ronald de Groot; Jacques J M van Dongen
Journal:  Pediatr Res       Date:  2002-02       Impact factor: 3.756

2.  Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans.

Authors:  Sarah E Calvo; David J Pagliarini; Vamsi K Mootha
Journal:  Proc Natl Acad Sci U S A       Date:  2009-04-16       Impact factor: 11.205

Review 3.  Untranslated regions of mRNAs.

Authors:  Flavio Mignone; Carmela Gissi; Sabino Liuni; Graziano Pesole
Journal:  Genome Biol       Date:  2002-02-28       Impact factor: 13.583

4.  X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world.

Authors:  Zeinab A El-Sayed; Irina Abramova; Juan Carlos Aldave; Waleed Al-Herz; Liliana Bezrodnik; Rachida Boukari; Ahmed Aziz Bousfiha; Caterina Cancrini; Antonio Condino-Neto; Ghassan Dbaibo; Beata Derfalvi; Figen Dogu; J David M Edgar; Brian Eley; Rasha Hasan El-Owaidy; Sara Elva Espinosa-Padilla; Nermeen Galal; Filomeen Haerynck; Rima Hanna-Wakim; Elham Hossny; Aydan Ikinciogullari; Ebtihal Kamal; Hirokazu Kanegane; Nadia Kechout; Yu Lung Lau; Tomohiro Morio; Viviana Moschese; Joao Farela Neves; Monia Ouederni; Roberto Paganelli; Kenneth Paris; Claudio Pignata; Alessandro Plebani; Farah Naz Qamar; Sonia Qureshi; Nita Radhakrishnan; Nima Rezaei; Nelson Rosario; John Routes; Berta Sanchez; Anna Sediva; Mikko Rj Seppanen; Edith Gonzalez Serrano; Anna Shcherbina; Surjit Singh; Sangeetha Siniah; Guiseppe Spadaro; Mimi Tang; Ana Maria Vinet; Alla Volokha; Kathleen E Sullivan
Journal:  World Allergy Organ J       Date:  2019-03-22       Impact factor: 4.084
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.