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MeSH:(Founder Effect)

1.Hereditary Breast Cancer in Korea: A Review of the Literature.

Byung Ho SON ; Sei Hyun AHN ; Min Hyuk LEE ; Sue Kyung PARK ; Sung Won KIM

Journal of Breast Cancer 2008;11(1):1-9

2.Haplotype analysis and possible founder effect at the R778L mutation of the ATP7B gene in Korean patients with Wilson's disease.

Sun Hwan BAE ; Jong Won KIM ; Jeong Kee SEO

The Korean Journal of Hepatology 2009;15(3):309-319

3.Sequence Variations and Haplotypes of the GJB2 Gene Revealed by Resequencing of 192 Chromosomes from the General Population in Korea.

Hee Jung KIM ; Chang Hun PARK ; Hee Jin KIM ; Ki O LEE ; Hong Hee WON ; Moon Hee KO ; Hosuk CHU ; Yang Sun CHO ; Won Ho CHUNG ; Jong Won KIM ; Sung Hwa HONG

Clinical and Experimental Otorhinolaryngology 2010;3(2):65-69

4.A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22.

Sun Ah CHOI ; Soo Yeon KIM ; Jihoo YOON ; Joongmoon CHOI ; Sung Sup PARK ; Moon Woo SEONG ; Hunmin KIM ; Hee HWANG ; Ji Eun CHOI ; Jong Hee CHAE ; Ki Joong KIM ; Seunghyo KIM ; Yun Jin LEE ; Sang Ook NAM ; Byung Chan LIM

Annals of Laboratory Medicine 2017;37(6):516-521

6.Pterin & DHPR measurement and DNA analysis in Korean PKU patients.

Chol Hee CHONG ; Hye Yong LEE ; Dong Hwan LEE ; Sang Jhoo LEE ; Ki Weon CHA ; Jeong Bin YIM ; Yoshiyuki OKANO

Journal of the Korean Pediatric Society 1993;36(12):1681-1690

7.Molecular diagnosis of 5alpha-reductase-2 gene mutation in two Indian families with male pseudohermaphroditism.

Marumudi EUNICE ; Pascal PHILIBERT ; Bindu KULSHRESHTHA ; Francoise AUDRAN ; Francoise PARIS ; Madan L KHURANA ; Praveen E PULIKKANATH ; Kiran KUCHERIA ; Charles SULTAN ; Ariachery C AMMINI

Asian Journal of Andrology 2008;10(5):815-818

8.Founder effect of two families with TGFBI related Thiel-Behnke corneal dystrophy.

Xue-jiao QIN ; Yong-yuan GUO ; Shi YAN ; Long-tao LI ; Hong-chen LIU ; Bao-guang ZHAO

Chinese Journal of Medical Genetics 2010;27(5):489-492

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