An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14-Reference-Cited by-同舟云学术

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14

Published:2023-01 Issue:1 Volume:110 Page:105-119
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Rafehi Haloom,Read Justin,Szmulewicz David J.,Davies Kayli C.,Snell Penny,Fearnley Liam G.,Scott Liam,Thomsen Mirja,Gillies Greta,Pope Kate,Bennett Mark F.,Munro Jacob E.,Ngo Kathie J.,Chen Luke,Wallis Mathew J.,Butler Ernest G.,Kumar Kishore R.,Wu Kathy HC.,Tomlinson Susan E.,Tisch Stephen,Malhotra Abhishek,Lee-Archer Matthew,Dolzhenko Egor,Eberle Michael A.,Roberts Leslie J.,Fogel Brent L.,Brüggemann Norbert,Lohmann Katja,Delatycki Martin B.,Bahlo Melanie,Lockhart Paul J.^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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