ub cholesterol site variants of SHH

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

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

Hum. Mutat. 2009
Participants
Participant Of
Disease
Name Identifier Synonyms
holoprosencephaly 4621 Holoprosencephaly sequence (disorder)