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Intragenic SNP haplotypes associated with 84dup18 mutation in TNFRSF11A in four familial expansile osteolysis pedigrees suggest three independent origins for this mutation

Author
ELAHI, Elahe1 2 ; SHAFAGHATI, Yousef3 ; ASADI, Sareh1 4 ; ABSALAN, Farnaz1 4 ; GOODARZI, Hani5 ; GHARAII, Nava5 ; KARIMI-NEJAD, Mohammad Hassan6 ; SHAHRAM, Farhad7 ; HUGHES, Anne E8
[1] Dept. of Biological Sciences, Faculty of Science, University of Tehran, Tehran, Iran, Islamic Republic of
[2] Bioinformatics Center, Institute of Biochemistry and Biophysics, University of Tehran, Tehran, Iran, Islamic Republic of
[3] Genetics Research Center, University of Welfare Science and Rehabilitation at Evin, Tehran, Iran, Islamic Republic of
[4] National Institute for Genetic Engineering and Biotechnology, Tehran-Karaj Expressway, Km 17 Pajouhesh Boulevard, Tehran, Iran, Islamic Republic of
[5] Dept. of Biotechnology, Faculty of Science, University of Tehran, Tehran, Iran, Islamic Republic of
[6] Karimi-Nejad/Najmabadi Genetics Center, Tehran, Iran, Islamic Republic of
[7] Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran, Islamic Republic of
[8] Dept. of Medical Genetics, The Queen's University of Belfast, Belfast, United Kingdom
Source

Journal of bone and mineral metabolism (English ed.). 2007, Vol 25, Num 3, pp 159-164, 6 p ; ref : 16 ref

ISSN
0914-8779
Scientific domain
Rheumatology
Publisher
Springer, Tokyo
Publication country
Japan
Document type
Article
Language
English
Author keyword
DNA repeat sequences RANK TNFRSF11A familial expansile osteolysis haplotype
Keyword (fr)
Etude familiale Haplotype Homme Mutation Ostéolyse Séquence nucléotide Séquence répétée Variation phénotypique Ostéolyse expansive familiale Epidémiologie Maladie héréditaire Système ostéoarticulaire pathologie
Keyword (en)
Family study Haplotype Human Mutation Osteolysis Nucleotide sequence Repeated sequence Phenotype variation Familial expansile osteolysis Epidemiology Genetic disease Diseases of the osteoarticular system
Keyword (es)
Estudio familiar Haplotipo Hombre Mutación Osteólisis Secuencia nucleótido Secuencia repetida Variación fenotípica Epidemiología Enfermedad hereditaria Sistema osteoarticular patología
Classification
Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B15 Diseases of the osteoarticular system / 002B15H Malformations and congenital and or hereditary diseases involving bones. Joint deformations

Discipline
Osteoarticular pathology
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
18695630

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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