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A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism.

Ieiri T, Cochaux P, Targovnik HM, Suzuki M, Shimoda S, Perret J, Vassart G. Ieiri T, et al. J Clin Invest. 1991 Dec;88(6):1901-5. doi: 10.1172/JCI115513. J Clin Invest. 1991. PMID: 1752952 Free PMC article.

Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation.

Garbarz M, Tse WT, Gallagher PG, Picat C, Lecomte MC, Galibert F, Dhermy D, Forget BG. Garbarz M, et al. J Clin Invest. 1991 Jul;88(1):76-81. doi: 10.1172/JCI115307. J Clin Invest. 1991. PMID: 2056132 Free PMC article.

Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients.

Levran O, Desnick RJ, Schuchman EH. Levran O, et al. J Clin Invest. 1991 Sep;88(3):806-10. doi: 10.1172/JCI115380. J Clin Invest. 1991. PMID: 1885770 Free PMC article.

Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.

Gotoda T, Yamada N, Kawamura M, Kozaki K, Mori N, Ishibashi S, Shimano H, Takaku F, Yazaki Y, Furuichi Y, Murase T. Gotoda T, et al. J Clin Invest. 1991 Dec;88(6):1856-64. doi: 10.1172/JCI115507. J Clin Invest. 1991. PMID: 1752947 Free PMC article.

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