Related content

Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA ( NTRK1 ) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor

By Mardy S.   Miura Y.   Endo F.   Matsuda I.   Indo Y.  

Human Molecular Genetics, Vol. 10, Iss. 3, 2001-02 ,pp. : 179-188

Oxford University Press

Access to resources Recommend Favorite

A mutation in the nerve growth factor beta gene ( NGFB ) causes loss of pain perception

By Einarsdottir Elisabet   Carlsson Anna   Minde Jan   Toolanen Göran   Svensson Olle   Solders Göran   Holmgren Gösta   Holmberg Dan   Holmberg Monica  

Human Molecular Genetics, Vol. 13, Iss. 8, 2004-04 ,pp. : 799-805

Oxford University Press

Access to resources Recommend Favorite

Targeted disruption of Slc19a2 , the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice

By Forrest D.  

Human Molecular Genetics, Vol. 11, Iss. 23, 2002-11 ,pp. : 2951-2960

Oxford University Press

Access to resources Recommend Favorite

Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2 , cause primary congenital glaucoma

By Narooie-Nejad Mehrnaz   Paylakhi Seyed Hassan   Shojaee Seyedmehdi   Fazlali Zeinab   Rezaei Kanavi Mozhgan   Nilforushan Naveed   Yazdani Shahin   Babrzadeh Farbod   Suri Fatemeh   Ronaghi Mostafa   Elahi Elahe   Paisn-Ruiz Coro  

Human Molecular Genetics, Vol. 18, Iss. 20, 2009-10 ,pp. : 3969-3977

Oxford University Press

Access to resources Recommend Favorite

Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype

By  

Sexual Development, Vol. 11, Iss. 2, 2017-04 ,pp. : 78-81

Karger

Access to resources Recommend Favorite