Harvard Catalyst Profiles
Contact, publication, and social network information about Harvard faculty and fellows.
Home
About
Overview
Open Source Software
Help
History (1)
Three independent mutations in the TSC2 gene in a family with tuberous sclerosis.
See All Pages
Find People
Find Everything
Login
to
edit your profile
(add a photo, education, awards, etc.), search
student opportunities
, and
create reports
.
Edit My Profile
My Person List (
0
)
Opportunity Search
Return to Top
Three independent mutations in the TSC2 gene in a family with tuberous sclerosis.
Three independent mutations in the TSC2 gene in a family with tuberous sclerosis. Eur J Hum Genet. 2009 Sep; 17(9):1165-70.
View in:
PubMed
subject areas
Adult
Base Sequence
Child, Preschool
Codon, Nonsense
DNA Mutational Analysis
Family Health
Female
Haplotypes
Humans
Male
Middle Aged
Mutation
Mutation, Missense
Pedigree
Reverse Transcriptase Polymerase Chain Reaction
Sequence Deletion
Tuberous Sclerosis
Tumor Suppressor Proteins
Young Adult
authors with profiles
David Joseph Kwiatkowski, M.D., Ph.D.