Concepedia

Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population

Zil-e-Huma Bashir, Noreen Latief, Inna A. Belyantseva, Farheena Iqbal, Sheikh Riazuddin, Shaheen N. Khan, Thomas B. Friedman, Sheikh Riazuddin, Saima Riazuddin

Journal of Human Genetics · 2012 · 23 citations · 42 references

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42

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

P. Naresh Kumar, Steven Henikoff, Pauline C. Ng · Nature Protocols · 2009 · 6.7K citations

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Claudin-1 and -2: Novel Integral Membrane Proteins Localizing at Tight Junctions with No Sequence Similarity to Occludin

Mikio Furuse, Kohji Fujita, Takashi Hiiragi et al. · The Journal of Cell Biology · 1998 · 2.1K citations · Full text

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Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands

Kazumasa Morita, Mikio Furuse, Kazushi Fujimoto et al. · Proceedings of the National Academy of Sciences · 1999 · 1.1K citations

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A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

Jacob I. Grimberg, S. Nawoschik, Leonardo Belluscio et al. · Nucleic Acids Research · 1989 · 518 citations · Full text

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Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function

Kiyoto Kurima, Linda Peters, Yandan Yang et al. · Nature Genetics · 2002 · 476 citations · Full text

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