Sonic hedgehog mutations identified in holoprosencephaly patients can act in a dominant negative manner

Human Genetics

Volumn 125, Issue 1, 2009, Pages 95-103

  Singh, Samer ^a   Tokhunts, Robert ^a   Baubet, Valerie ^c   Goetz, John A ^a   Huang, Zhen Jane ^a   Schilling, Neal S ^a   Black, Kendall E ^a   MacKenzie, Todd A ^a   Dahmane, Nadia ^c   Robbins, David J ^a,b  

^a DARTMOUTH MEDICAL SCHOOL   (United States)

^b DARTMOUTH HITCHCOCK MEDICAL CENTER   (United States)

^c WISTAR INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SONIC HEDGEHOG PROTEIN;

AMINO TERMINAL SEQUENCE; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BIOGENESIS; BRAIN DEVELOPMENT; CHICK; CONTROLLED STUDY; DOMINANT INHERITANCE; EMBRYO; GENE MUTATION; GENETIC SUSCEPTIBILITY; HOLOPROSENCEPHALY; IN VITRO STUDY; IN VIVO STUDY; MISSENSE MUTATION; NONHUMAN; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PROCESSING; PROTEIN SECRETION; PROTEIN STABILITY;

AMINO ACID SEQUENCE; ANIMALS; CHICK EMBRYO; HEDGEHOG PROTEINS; HOLOPROSENCEPHALY; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PROSENCEPHALON; SEQUENCE ALIGNMENT;

ERINACEIDAE; VERTEBRATA;

EID: 58849092141     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-008-0599-0     Document Type: Article

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