Literature DB >> 23354996

A common founder mutation p.P2063S in exon 36 of VWF in 11 unrelated Indian von Willebrand disease (VWD) families.

Priyanka Kasatkar, Kanjaksha Ghosh, Shrimati Shetty.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2013        PMID： 23354996     DOI： 10.1007/s00277-013-1680-x

Source DB:  PubMed          Journal:  Ann Hematol        ISSN： 0939-5555            Impact factor:   3.673


× No keyword cloud information.
  4 in total

1.  Whole-exome sequencing in evaluation of patients with venous thromboembolism.

Authors:  Eun-Ju Lee; Daniel J Dykas; Andrew D Leavitt; Rodney M Camire; Eduard Ebberink; Pablo García de Frutos; Kavitha Gnanasambandan; Sean X Gu; James A Huntington; Steven R Lentz; Koen Mertens; Christopher R Parish; Alireza R Rezaie; Peter P Sayeski; Caroline Cromwell; Noffar Bar; Stephanie Halene; Natalia Neparidze; Terri L Parker; Adrienne J Burns; Anne Dumont; Xiaopan Yao; Cassius Iyad Ochoa Chaar; Jean M Connors; Allen E Bale; Alfred Ian Lee
Journal:  Blood Adv       Date:  2017-06-29

2.  p.P2063S: a neutral VWF variant masquerading as a mutation.

Authors:  Daniel J Hampshire; Anne C Goodeve
Journal:  Ann Hematol       Date:  2013-06-18       Impact factor: 3.673

Review 3.  Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.

Authors:  Arshia Angural; Akshi Spolia; Ankit Mahajan; Vijeshwar Verma; Ankush Sharma; Parvinder Kumar; Manoj Kumar Dhar; Kamal Kishore Pandita; Ekta Rai; Swarkar Sharma
Journal:  Front Genet       Date:  2020-04-30       Impact factor: 4.599

4.  Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.

Authors:  Nina Borràs; Javier Batlle; Almudena Pérez-Rodríguez; María Fernanda López-Fernández; Ángela Rodríguez-Trillo; Esther Lourés; Ana Rosa Cid; Santiago Bonanad; Noelia Cabrera; Andrés Moret; Rafael Parra; María Eva Mingot-Castellano; Ignacia Balda; Carme Altisent; Rocío Pérez-Montes; Rosa María Fisac; Gemma Iruín; Sonia Herrero; Inmaculada Soto; Beatriz de Rueda; Víctor Jiménez-Yuste; Nieves Alonso; Dolores Vilariño; Olga Arija; Rosa Campos; María José Paloma; Nuria Bermejo; Rubén Berrueco; José Mateo; Karmele Arribalzaga; Pascual Marco; Ángeles Palomo; Lizheidy Sarmiento; Belén Iñigo; María Del Mar Nieto; Rosa Vidal; María Paz Martínez; Reyes Aguinaco; Jesús María César; María Ferreiro; Javier García-Frade; Ana María Rodríguez-Huerta; Jorge Cuesta; Ramón Rodríguez-González; Faustino García-Candel; Rosa Cornudella; Carlos Aguilar; Francisco Vidal; Irene Corrales
Journal:  Haematologica       Date:  2017-09-29       Impact factor: 9.941
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.