Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene
- Author
- KREMER, H1 ; KRAAIJ, R; THEMMEN, A. P. N; BRUNNER, H. G1 ; TOLEDO, S. P. A; POST, M; FRIDMAN, J. B; HAYASHIDA, C. Y; VAN REEN, M1 ; MILGROM, E2 ; ROPERS, H.-H1 ; MARIMAN, E1
[1] Univ. hosp., dep. human genetics, Nijmegen, Netherlands
[2] INSERM Univ. Paris, fac. médecine Bicêtre, unité rech. hormones reproduction, Paris, France - Source
Nature genetics. 1995, Vol 9, Num 2, pp 160-164 ; ref : 35 ref
- Publisher
- Nature Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Gène Génétique Homme Interaction moléculaire LH Mutation faux sens Pseudohermaphrodisme mâle Récepteur hormonal Récepteur membranaire Anomalie différenciation sexuelle Appareil génital mâle pathologie Endocrinopathie Gonadotrophine Hormone glycoprotéine Maladie congénitale Maladie héréditaire Malformation
- Keyword (en)
- Gene Genetics Human Molecular interaction LH Missense mutation Male pseudohermaphroditism Hormonal receptor Membrane receptor Male genital diseases Endocrinopathy Gonadotropin Glycoprotein hormone Congenital disease Genetic disease Malformation
- Keyword (es)
- Gen Genética Hombre Interacción molecular LH Mutación falso sentido Seudohermafroditismo masculino Receptor hormonal Receptor membrana Aparato genital macho patología Endocrinopatía Gonadotropina Hormona glicoproteína Enfermedad congénita Enfermedad hereditaria Malformación
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B20 Gynecology. Andrology. Obstetrics / 002B20B Male genital diseases / 002B20B01 Non tumoral diseases
- Discipline
- Gynecology. Andrology. Obstetrics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 3392317
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
10.1038/ng0295-160 
https://dx.doi.org/10.1038/ng0295-160
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