Recurrent Missense (R197C) and Nonsense (Y89X) Mutations in the XLRS1 Gene in Families with X-Linked Retinoschisis

Polymorphic DNA region adjacent to the 5' end of the human insulin gene.

1981 • 910 citations

Positional cloning of the gene associated with X-linked juvenile retinoschisis

1997 • 473 citations

Clinical Features in Affected Males With X-Linked Retinoschisis

1996 • 241 citations

Nonsense mutations in the human beta-globin gene affect mRNA metabolism.

1988 • 229 citations

Functional Implications of the Spectrum of Mutations Found in 234 Cases With X-linked Juvenile Retinoschisis (XLRS)

1998 • 210 citations

Visual acuity in 183 cases of X-chromosomal retinoschisis.

1973 • 126 citations

mRNA-deficint β^°-thaladssemia results from a single nucleotide deletion

1982 • 111 citations

A NEW CLASSIFICATION OF THE RETINOSCHISES

1995 • 25 citations

Improved genetic mapping of X linked retinoschisis.

1996 • 15 citations

Refined Genetic Mapping of Juvenile X-Linked Retinoschisis

1995 • 9 citations

Linkage mapping of a large Colombian family segregating for X linked retinoschisis: refinement of the chromosomal location.

1997 • 8 citations

Linkage Mapping of New X-Linked Juvenile Retinoschisis Kindreds Using Microsatellite Markers

1996 • 6 citations