Concepedia

Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations

Tim Forshew, Colin A. Johnson, Shagufta Khaliq, Shanaz Pasha, Catherine Willis, Rashida Abbasi, Louise Tee, Ursula M. Smith, Richard C. Trembath, S. Qasim Mehdi,

Human Genetics · 2005 · 74 citations · 34 references

DOI

Concepts

References

34

A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy

Patrick Vicart, Anne Caron, Pascale Guicheney et al. · Nature Genetics · 1998 · 1.1K citations

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Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

M. Litt · Human Molecular Genetics · 1998 · 447 citations

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A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

Elena V. Semina, Robert E. Ferrell, Helen A. Mintz-Hittner et al. · Nature Genetics · 1998 · 393 citations

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A Missense Mutation in the Human Connexin50 Gene (GJA8) Underlies Autosomal Dominant “Zonular Pulverulent” Cataract, on Chromosome 1q

Alan Shiels, Donna S. Mackay, Alexander Ionides et al. · The American Journal of Human Genetics · 1998 · 383 citations · Full text

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An auditory domain in primate prefrontal cortex

Lizabeth M. Romanski, Patricia S. Goldman‐Rakic · Nature Neuroscience · 2001 · 364 citations · Full text

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