Concepedia

Correlation of cognitive, neurologic, and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene

Francine Kaufman, Juergen Reichardt, Won G. Ng, Yan-Kang Xu, Franklin R. Manis, Catherine McBride‐Chang, Jon A. Wolff

The Journal of Pediatrics · 1994 · 68 citations · 11 references

DOI

Concepts

References

11

Correlation between Genotype and Phenotype in Patients with Cystic Fibrosis

New England Journal of Medicine · 1993 · 564 citations · Full text

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Long‐term prognosis in galactosaemia: Results of a survey of 350 cases

Darrel Waggoner, Neil R.M. Buist, George N. Donnell · Journal of Inherited Metabolic Disease · 1989 · 532 citations

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An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.

Douglas F. Easton, Margaret A. Ponder, SM Huson et al. · PubMed · 1993 · 389 citations

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The human galactose-1-phosphate uridyltransferase gene

Nancy D. Leslie, Elisa B. Immerman, James E. Flach et al. · Genomics · 1992 · 138 citations

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Deficit of uridine diphosphate galactose in galactosaemia

W.G. Ng, Y Xu, Francine Kaufman et al. · Journal of Inherited Metabolic Disease · 1989 · 106 citations

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