Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia
- Author
- NAEEM, M1 ; MUHAMMAD, D1 ; AHMAD, W1
[1] Department of Biological Sciences, Quaid-i-Aznm University, Islamabad 45320, Pakistan - Source
British journal of dermatology (1951). 2005, Vol 153, Num 1, pp 46-50, 5 p ; ref : 20 ref
- CODEN
- BJDEAZ
- ISSN
- 0007-0963
- Scientific domain
- Dermatology
- Publisher
- Blackwell, Edinburgh
/
Blackwell, London
/
Blackwell, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- EDAR Puktsluni families hypohidrolic ectodermal dysplasia
- Keyword (fr)
- Caractère autosomique Consanguinité Dermatologie Dysplasie ectodermique anhidrotique Dysplasie ectodermique Etude familiale Gène Homme Mutation Poil Gène EDAR Pakistan Dent pathologie Glande sudoripare pathologie Maladie congénitale Maladie héréditaire Malformation Peau pathologie Stomatologie Asie
- Keyword (en)
- Autosomal character Consanguinity Dermatology Anhidrotic ectodermal dysplasia Ectodermal dysplasia Family study Gene Human Mutation Hair Pakistan Dental disease Sweat gland disease Congenital disease Genetic disease Malformation Skin disease Stomatology Asia
- Keyword (es)
- Carácter autosómico Consanguinidad Dermatología Displasia ectodérmica anhidrótica Displasia ectodérmica Estudio familiar Gen Hombre Mutación Pelo Pakistan Diente patología Glándula sudorípara patología Enfermedad congénita Enfermedad hereditaria Malformación Piel patología Estomatología Asia
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B08 Dermatology / 002B08H Hair and nails disorders
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B08 Dermatology / 002B08J Skin involvement in other diseases. Miscellaneous. General aspects
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B10 Otorhinolaryngology. Stomatology / 002B10C Facial bones, jaws, teeth, parodontium: diseases, semeiology / 002B10C02 Non tumoral diseases
- Discipline
- Dermatology Otorhinolaryngology. Stomatology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 16928600
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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DOI
10.1111/j.1365-2133.2005.06642.x 
https://dx.doi.org/10.1111/j.1365-2133.2005.06642.x
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