Concepedia

The human ribosomal protein L6 gene in a critical region for Noonan syndrome

Naoya Kenmochi, Maki Yoshihama, Sayomi Higa, Tatsuo Tanaka

Journal of Human Genetics · 2000 · 23 citations · 16 references

DOI

Concepts

References

16

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

Natalia Draptchinskaia, Peter Gustavsson, Björn Andersson et al. · Nature Genetics · 1999 · 788 citations

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Homologous ribosomal protein genes on the human X and Y chromosomes: Escape from X inactivation and possible implications for turner syndrome

Elizabeth Fisher, Peggy Beer‐Romero, Laura G. Brown et al. · Cell · 1990 · 406 citations

, , +17

Mapping a gene for Noonan syndrome to the long arm of chromosome 12

C. Ruth Jamieson, Ineke van der Burgt, Angela F. Brady et al. · Nature Genetics · 1994 · 290 citations

, , +9

A Drosophila Minute gene encodes a ribosomal protein

Kritaya Kongsuwan, Qiang Yu, Alain Vincent et al. · Nature · 1985 · 220 citations

, , +11

Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression.

Thiébaut-Noël Willig, Natalia Draptchinskaia, Irma Dianzani et al. · PubMed · 1999 · 203 citations

, , +15