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

Author

ELAHI, Elahe^{1 2} ; SHAFAGHATI, Yousef³ ; ASADI, Sareh^{1 4} ; ABSALAN, Farnaz^{1 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