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

Popovic M, Goobie S, Morrison J, Ellis L, Ehtesham N, Richards N, Boocock G, Durie PR, Rommens JM
Eur J Hum Genet. 2002 10 (4): 250-8

PMID: 12032733 · DOI:10.1038/sj.ejhg.5200798

MeSH Terms (15)

Chromosomes, Human, Pair 7 DNA Mutational Analysis Exocrine Pancreatic Insufficiency Female Haplotypes Hematologic Diseases Humans Linkage Disequilibrium Male Musculoskeletal Abnormalities Pedigree Physical Chromosome Mapping Reverse Transcriptase Polymerase Chain Reaction Sulfotransferases Syndrome

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