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Timothy W. Hefferon

Johns Hopkins University

5

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A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing.

2004 Proceedings of the National Academy of Sciences of the United States of America
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Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

2004 American Journal of Human Genetics
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Achondroplasia is defined by recurrent G380R mutations of FGFR3.

1995 American Journal of Human Genetics
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Localization of the achondroplasia gene to the distal 2. 5 Mb of human chromosome 4p

1994 Human Molecular Genetics
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Current status of mapping studies in achondroplasia

1994 Matrix Biology
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