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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
; 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 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
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 and Muenke, Maximilian
(2009)
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.
Human Mutation 30 (10), E921-E935.
Date of publication of this fulltext: 19 Dec 2024 12:00
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| Item type | Article | ||||
| Journal or Publication Title | Human Mutation | ||||
| Publisher: | WILEY | ||||
|---|---|---|---|---|---|
| Place of Publication: | HOBOKEN | ||||
| Volume: | 30 | ||||
| Number of Issue or Book Chapter: | 10 | ||||
| Page Range: | E921-E935 | ||||
| Date | 2009 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||
| Identification Number |
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| Keywords | MAXILLARY CENTRAL INCISOR; SONIC-HEDGEHOG GENE; BRACHYDACTYLY TYPE A1; HUMAN SIX3 GENE; GONADAL-DYSGENESIS; DESERT-HEDGEHOG; INDIAN HEDGEHOG; HETEROZYGOUS MUTATION; CRYSTAL-STRUCTURE; TERMINAL DOMAIN; holoprosencephaly; mutation spectrum; SHH; protein processing | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 66879 |
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