Aberrant splicing of phenylalanine hydroxylase mRNA: The major cause for phenylketonuria in parts of southern Europe

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1988 · 7.8K citations

Life Sciences, Genetics, Molecular Genetics +13

The Metabolic Basis of Inherited Disease

Annals of Internal Medicine · 1990 · 4K citations

Life Sciences, Genetics, Molecular Genetics +13

A role for exon sequences and splice-site proximity in splice-site selection

Robin Reed, Tom Maniatis · Cell · 1986 · 480 citations

Life Sciences, Genetics, Molecular Biology +11

Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase

Simon C.M. Kwok, Fred D. Ledley, Anthony G. DiLella et al. · Biochemistry · 1985 · 323 citations

Life Sciences, Biochemistry, Molecular Biology +10

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

Anthony G. DiLella, Joshua Marvit, Alan S. Lidsky et al. · Nature · 1986 · 248 citations

Life Sciences, Genetics, Molecular Genetics +14