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Human Mutation|January 12, 2005
Toward the evaluation of function in genetic variability: characterizing human SNP frequencies and establishing BAC-transgenic mice carrying the human CYP1A1_CYP1A2 locusZhengwen Jiang, Timothy P Dalton, Li Jin, et al.
Human Mutation|July 9, 2004
Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndromeB Loeys, J De Backer, P Van Acker, et al.
Human Mutation|July 9, 2004
Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH methodHoward Slater, Damien Bruno, Hua Ren, et al.
Human Mutation|July 9, 2004
USH2A mutation analysis in 70 Dutch families with Usher syndrome type IIRonald J E Pennings, Heleen Te Brinke, Michael D Weston, et al.
Human Mutation|July 9, 2004
Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patientsShunji Tomatsu, Mirella Filocamo, Koji O Orii, et al.
Human Mutation|August 10, 2004
Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlationGul N Shah, Giuseppe Bonapace, Peiyi Y Hu, et al.
Human Mutation|June 25, 2005
LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approachIvo F A C Fokkema, Johan T den Dunnen, Peter E M Taschner
Human Mutation|July 13, 2005
Rapid recognition of aberrant dHPLC elution profiles using the Transgenomic Navigator softwareJames Colley, Siân Jones, Anthony R Dallosso, et al.
Human Mutation|June 15, 2005
Novel mutations in type 2 Gaucher disease in Chinese and their functional characterization by heterologous expressionNelson L S Tang, Weimin Zhang, G A Grabowski, et al.
Human Mutation|June 21, 2005
BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertensionMarja Sankelo, Julia A Flanagan, Rajiv Machado, et al.
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