A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia-Reference-Cited by-同舟云学术

A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia

Published:2003-01 Issue:1 Volume:72 Page:191-199
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

van Swieten John C.,Brusse Esther,de Graaf Bianca M.,Krieger Elmar,van de Graaf Raoul,de Koning Inge,Maat-Kievit Anneke,Leegwater Peter,Dooijes Dennis,Oostra Ben A.,Heutink Peter

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference27 articles.

1. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23;The ADHR Consortium;Nat Genet,2000

2. Hydrophobic core manipulations in ribonuclease T1;De Vos;Biochemistry,2001

3. Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese;Gwinn-Hardy;Neurology,2000

4. Structure of fibroblast growth factor 9 shows a symmetric dimer with unique receptor- and heparin-binding interfaces;Hecht;Acta Crystallogr D Biol Crystallogr,2001

5. Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12;Holmes;Nat Genet,1999

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