The mutational spectrum of holoprosencephaly-associated changes within theSHHgene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis-Reference-Cited by-同舟云学术

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The mutational spectrum of holoprosencephaly-associated changes within theSHHgene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

Published:2009-10 Issue:10 Volume:30 Page:E921-E935
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Roessler Erich,El-Jaick Kenia B.,Dubourg Christèle,Vélez Jorge I.,Solomon Benjamin D.,Pineda-Álvarez Daniel E.,Lacbawan Felicitas,Zhou Nan,Ouspenskaia Maia,Paulussen Aimée,Smeets Hubert J.,Hehr Ute,Bendavid Claude,Bale Sherri,Odent Sylvie,David Véronique,Muenke Maximilian

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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