Exome sequencing identifies mutations inLZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly-Reference-Cited by-同舟云学术

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Exome sequencing identifies mutations inLZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly

Published:2012-04-17 Issue:5 Volume:49 Page:317-321
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Marion Vincent,Stutzmann Fanny,Gérard Marion,De Melo Charlie,Schaefer Elise,Claussmann Aurélie,Hellé Sophie,Delague Valérie,Souied Eric,Barrey Catherine,Verloes Alain,Stoetzel Corinne,Dollfus Hélène

Publisher

BMJ

Subject

Genetics (clinical),Genetics

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