Concepedia

A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome

Mohammad Al-Haggar, Agnieszka Madej‐Pilarczyk, Janusz M. Bujnicki, Sohier Yahia, Dina Abdel-Hadi, Amany Shams, Nermin Ahmad, Sahar Hamed, Monika Puzianowska‐Kuźnicka

European Journal of Human Genetics · 2012 · 35 citations · 34 references

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References

34

Predicting Deleterious Amino Acid Substitutions

Pauline C. Ng, Steven Henikoff · Genome Research · 2001 · 2.7K citations · Full text

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Human non-synonymous SNPs: server and survey

Vasily Ramensky · Nucleic Acids Research · 2002 · 2.3K citations · Full text

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Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

Maria Eriksson, W. Ted Brown, Leslie B. Gordon et al. · Nature · 2003 · 2.2K citations · Full text

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Lamin A Truncation in Hutchinson-Gilford Progeria

Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard, Pierre Cau et al. · Science · 2003 · 1.5K citations

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Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease

Diane Fatkin, Calum A. MacRae, Takeshi Sasaki et al. · New England Journal of Medicine · 1999 · 1.4K citations · Full text

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