Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.

Stone, D L

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. [electronic resource] - Nature genetics May 2000 - 79-82 p. digital

Publication Type: Journal Article

1061-4036

10.1038/75637 doi


Abnormalities, Multiple--genetics
Amino Acid Sequence
Animals
Chaperonins--genetics
Child
Cloning, Molecular
Female
Heart Defects, Congenital--genetics
Humans
Infant
Male
Mice
Molecular Sequence Data
Mutation, Missense--genetics
Polydactyly--genetics
Syndrome
Urogenital Abnormalities--genetics