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A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family

Author
YING LIN1 ; JUAN ZHAO2 ; SHIPEI CHEN2 ; XUEBIN ZENG2 ; QIONG DU1 ; YANG YANG1 ; FANG LU1 ; YONGHONG PU3 ; ZHENGLIN YANG1
[1] Center for Human Molecular Biology and Genetics, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Sichuan, China
[2] The Center Hospital of Pan Zhi Hua City, Sichuan, China
[3] Chengdu University of Traditional Chinese Medicine, Sichuan, China
Source

Bone (New York, NY). 2008, Vol 43, Num 3, pp 591-595, 5 p ; ref : 29 ref

ISSN
8756-3282
Scientific domain
Orthopedics traumatology; Physiology, morphology
Publisher
Elsevier Science, New York, NY
Publication country
United States
Document type
Article
Language
English
Author keyword
Chinese LMXIB Linkage Mutation Nail-patella syndrome (NPS)
Keyword (fr)
Etude familiale Liaison génétique Morphologie Mutation Ongle Ostéoonychodysostose Dysostose Génétique Maladie héréditaire Pathologie de la peau Pathologie du système ostéoarticulaire
Keyword (en)
Family study Genetic linkage Morphology Mutation Nail(anatomy) Nail patella syndrome Dysostosis Genetics Genetic disease Skin disease Diseases of the osteoarticular system
Keyword (es)
Estudio familiar Ligamiento genético Morfología Mutación Uña Osteoonicodisostosis Disostosis Genética Enfermedad hereditaria Piel patología Sistema osteoarticular patología
Classification
Pascal
002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A16 Vertebrates: anatomy and physiology, studies on body, several organs or systems

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 Vertebrates : anatomy and physiology, studies on body, several organs or systems
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
20615676

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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