Published in Hum Genet on April 01, 1998
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Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nat Genet (1998) 2.51
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Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots. Nature (1987) 2.49
A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat Genet (1998) 2.48
Genetic determination of exocrine pancreatic function in cystic fibrosis. Am J Hum Genet (1992) 2.48
Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene. Nat Genet (1992) 2.40
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. Nat Genet (2001) 2.39
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat Genet (2000) 2.38
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Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease. N Engl J Med (1990) 2.37