Publication | Open Access

Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene

Genetic DisorderGeneticsClinical GeneticsHuman PolymorphismPathologyShwachman-diamond SyndromeMolecular GeneticsDisease Gene IdentificationGenomicsMedicineFine MappingMonogenic DisordersCandidate Gene