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Human Genetics|June 20, 2002
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutationsKim Cryns, Markus Pfister, Ronald J E Pennings, et al.Human Genetics|June 20, 2002
Nuclear mitochondrial interplay in the modulation of the homopolymeric tract length heteroplasmy in the control (D-loop) region of the mitochondrial DNASafarina Malik, Herawati Sudoyo, Patcharin Pramoonjago, et al.Human Genetics|June 20, 2002
Genetic diversity and evolution of the human leptin locus tetranucleotide repeatSusan Moffett, Jeremy Martinson, Mark D Shriver, et al.Human Genetics|June 20, 2002
A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22(0)) leading to the activation of a cryptic splice site in intron 4Marie José Stasia, Pierre Bordigoni, Cécile Martel, et al.Human Genetics|June 20, 2002
Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, AustraliaJan Fullerton, Patricia Paprocki, Simon Foote, et al.Human Genetics|June 20, 2002
Universal, robust, highly quantitative SNP allele frequency measurement in DNA poolsNadine Norton, Nigel M Williams, Hywel J Williams, et al.Human Genetics|June 20, 2002
Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locusDavid A Mackey, Wai-Man Chan, Christopher Chan, et al.Human Genetics|September 7, 2002
Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)Giorgio Gimelli, Sabrina Giglio, Orsetta Zuffardi, et al.Human Genetics|September 7, 2002
A point mutation, R59G, within the HMG-SRY box in a female 45,X/46,X, psu dic(Y)(pter-->q11::q11-->pter)Rosa Fernandez, Juan A Marchal, Antonio Sanchez, et al.Human Genetics|September 7, 2002
A genome-wide screen reveals evidence for a locus on chromosome 11 influencing variation in LDL cholesterol in the NHLBI Family Heart StudyHilary Coon, John H Eckfeldt, Mark F Leppert, et al.Pageof 959