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LUPSKI, JAMES
One or more keywords matched the following items that are connected to
LUPSKI, JAMES
Item Type
Name
Academic Article
CMT4A: identification of a Hispanic GDAP1 founder mutation.
Academic Article
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.
Academic Article
Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.
Concept
Founder Effect
Academic Article
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.
Academic Article
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.
Search Criteria
Founder Effect