ub cholesterol site variants of SHH [cytosol]

Stable Identifier
R-HSA-5387368
Type
Set [CandidateSet]
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
19603532 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

Pineda-Alvarez, DE, Hehr, U, Bale, S, Zhou, N, Odent, S, Roessler, E, David, V, Bendavid, C, VĂ©lez, JI, Dubourg, C, Ouspenskaia, M, El-Jaick, KB, Lacbawan, F, Paulussen, A, Smeets, HJ, Solomon, BD, Muenke, M

Hum. Mutat. 2009
Participants
Participates
Disease
Name Identifier Synonyms
holoprosencephaly DOID:4621 Holoprosencephaly sequence (disorder)
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