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Article

One founder/one gene hypothesis in a new expanding population: Saguenay (Quebec, Canada).

Human biology - 1 Feb 1999

Heyer E

Abstract excerpt

High frequencies of some rare inherited recessive disorders can be found in the Saguenay region of Quebec, Canada. Four disorders have a carrier frequency of about 0.04 (in the range 0.035-0.05): pseudovitamin D-dependent rickets, hereditary tyrosinemia type 1, Charlevoix-Saguenay spastic ataxia, and sensorimotor polyneuropathy with or without agenesis of the corpus callosum. Molecular data suggest that only 1...

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PMID: 9972101

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