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Human Mutation|March 25, 1999
Repopulation of rho0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNA(Gly) results in respiratory chain dysfunctionS Raha, F Merante, E Shoubridge, et al.Human Mutation|March 25, 1999
Peutz-Jeghers syndrome: four novel inactivating germline mutations in the STK11 gene. Mutations in brief no. 227. OnlineR Kruse, S Uhlhaas, C Lamberti, et al.Human Mutation|May 25, 1999
A single, large deletion accounts for all the beta-globin gene mutations in twenty families from Sabah (North Borneo), Malaysia. Mutation in brief no. 240. OnlineM K Thong, Z Rudzki, J Hall, et al.Human Mutation|May 25, 1999
Screen of 55 Slovenian haemophilia A patients: identification of 2 novel mutations (S-1R and IVS23+1G-->A) and discussion of mutation spectrum. Mutation in brief no. 241. OnlineL Strmecki, M Benedik-Dolnicar, K Vouk, et al.Human Mutation|November 3, 2000
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)G Matthijs, E Schollen, C Bjursell, et al.Human Mutation|November 3, 2000
Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome populationM L Heritage, J C MacMillan, R P Colliton, et al.Human Mutation|November 3, 2000
Hierarchical mutation screening protocol for the BRCA1 geneM R Hegde, B Chong, M J Fawkner, et al.Human Mutation|November 3, 2000
Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCRK Wilke, B Duman, J HorstHuman Mutation|February 17, 2001
A new technique for cyclic in situ amplification and a case report about amplification of a single copy gene sequence in human metaphase chromosomes through PCR-PRINST Harrer, E Schwinger, K MennickeHuman Mutation|November 4, 2017
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport SyndromeSergio Daga, Margherita Baldassarri, Caterina Lo Rizzo, et al.Pageof 583