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

Human Mutation

Volumn 30, Issue 10, 2009, Pages 921-935

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

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

^c UNIVERSITÉ DE RENNES 1   (France)

^d MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF REGENSBURG   (Germany)

^f GENEDX   (United States)

^g SERVICE DE RHUMATOLOGIE   (France)

Author keywords

Holoprosencephaly; Mutation spectrum; Protein processing; SHH

Indexed keywords

LIGAND; SHH PROTEIN, HUMAN; SONIC HEDGEHOG PROTEIN;

AMINO ACID SEQUENCE; ARTICLE; BIOSYNTHESIS; CHEMISTRY; GENETICS; HOLOPROSENCEPHALY; HUMAN; METABOLISM; MOLECULAR GENETICS; MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; HEDGEHOG PROTEINS; HOLOPROSENCEPHALY; HUMANS; LIGANDS; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 73349088745     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21090     Document Type: Article

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