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Human Mutation|January 1, 1997
Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosaA M Christiano, G G Hoffman, X Zhang, et al.Human Mutation|January 1, 1997
Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African AmericansE M Adams, J A Becker, L Griffith, et al.Human Mutation|January 1, 1997
The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutationY J de Kok, C W Cremers, H H Ropers, et al.Human Mutation|June 20, 1998
Deletion analysis of Bulgarian SMA familiesA Jordanova, V Stoyanova, M Uzunova, et al.Human Mutation|June 20, 1998
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathiesK Silander, P Meretoja, V Juvonen, et al.Human Mutation|May 29, 1998
Assessment of pyrin gene mutations in Turks with familial Mediterranean fever (FMF)X Chen, N Fischel-Ghodsian, A Cercek, et al.Human Mutation|May 29, 1998
Molecular pathology of galactosialidosis in a patient affected with two new frameshift mutations in the cathepsin A/protective protein geneC Richard, J Tranchemontagne, M A Elsliger, et al.Human Mutation|May 26, 1998
Chemical cleavage of mismatch: a new look at an established methodT P Ellis, K E Humphrey, M J Smith, et al.Human Mutation|May 26, 1998
Molecular basis of phenylketonuria in Venezuela: presence of two novel null mutationsM De Lucca, B Pérez, L R Desviat, et al.Human Mutation|May 26, 1998
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypesK Wataya, J Akanuma, P Cavadini, et al.Pageof 583