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Molecular, ultrastructural and functional characterization of a Spanish family with Hermansky-Pudlak syndrome: role of insC9 74 in platelet function and clinical relevance

Author
GONZALEZ-CONEJERO, Rocio1 ; RIVERA, José1 ; ESCOLAR, Ginés2 ; ZUAZU-JAUSORO, Isabel1 ; VICENTE, Vicente1 ; CORRAL, Javier1
[1] Centro Regional de Hemodonación/University of Murcia, Murcia, Spain
[2] Hospital Clinic, Hemotherapy and Hemostasis Service, Barcelona, Spain
Source

British journal of haematology. 2003, Vol 123, Num 1, pp 132-138, 7 p ; ref : 20 ref

CODEN
BJHEAL
ISSN
0007-1048
Scientific domain
Medical oncology; Hematology
Publisher
Blackwell, Oxford
Publication country
United Kingdom
Document type
Article
Language
English
Author keyword
HPS-1 gene. platelet-dense granules Hermansky-Pudlak syndrome platelet function
Keyword (fr)
Activité biologique Enfant Etude cas Etude familiale Forme clinique Granule sécrétion Hermansky Pudlak syndrome Mâle Réaction chaîne polymérase RT Thrombocyte Ultrastructure Gène HPS-1 Biologie moléculaire Génétique Homme Peau pathologie
Keyword (en)
Biological activity Child Case study Family study Clinical form Secretion granule Hermansky Pudlak syndrome Male Reverse transcription polymerase chain reaction Platelet Ultrastructure Molecular biology Genetics Human Skin disease
Keyword (es)
Actividad biológica Niño Estudio caso Estudio familiar Forma clínica Gránulo secreción Hermansky Pudlak síndrome Macho Reacción cadena polimerasa transcripción inversa Trombocito Ultraestructura Biología molecular Genética Hombre Piel patología
Classification
Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B19 Hematologic and hematopoietic diseases / 002B19C Platelet diseases and coagulopathies

Discipline
Blood diseases
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
15140650

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS

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