Results
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2361.
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N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. [electronic resource] by
- Rickman, L
- Simrak, D
- Stevens, H P
- Hunt, D M
- King, I A
- Bryant, S P
- Eady, R A
- Leigh, I M
- Arnemann, J
- Magee, A I
- Kelsell, D P
- Buxton, R S
Producer: 19990708
In:
Human molecular genetics vol. 8
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2362.
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2363.
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2364.
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2365.
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2366.
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Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. [electronic resource] by
- Whittock, Neil V
- Smith, Frances J
- Wan, Hong
- Mallipeddi, Rajeev
- Griffiths, W Andrew
- Dopping-Hepenstal, Patricia
- Ashton, Gabrielle H
- Eady, Robin A
- McLean, W H Irwin
- McGrath, John A
Producer: 20020613
In:
The Journal of investigative dermatology vol. 118
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2367.
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2368.
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2369.
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2370.
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2371.
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2372.
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Rhomboid family member 2 regulates cytoskeletal stress-associated Keratin 16. [electronic resource] by
- Maruthappu, Thiviyani
- Chikh, Anissa
- Fell, Benjamin
- Delaney, Paul J
- Brooke, Matthew A
- Levet, Clemence
- Moncada-Pazos, Angela
- Ishida-Yamamoto, Akemi
- Blaydon, Diana
- Waseem, Ahmad
- Leigh, Irene M
- Freeman, Matthew
- Kelsell, David P
Producer: 20181211
In:
Nature communications vol. 8
Availability: No items available.
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2373.
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Normalization of Naxos plakoglobin levels restores cardiac function in mice. [electronic resource] by
- Zhang, Zhiwei
- Stroud, Matthew J
- Zhang, Jianlin
- Fang, Xi
- Ouyang, Kunfu
- Kimura, Kensuke
- Mu, Yongxin
- Dalton, Nancy D
- Gu, Yusu
- Bradford, William H
- Peterson, Kirk L
- Cheng, Hongqiang
- Zhou, Xinmin
- Chen, Ju
Producer: 20150702
In:
The Journal of clinical investigation vol. 125
Availability: No items available.
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2374.
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2375.
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Infrequent mutation of the human envoplakin gene is closely linked to the tylosis oesophageal cancer locus in sporadic oesophageal squamous cell carcinomas. [electronic resource] by
- Iwaya, Takeshi
- Maesawa, Chihaya
- Kimura, Toshimoto
- Ogasawara, Satoshi
- Ikeda, Kenichro
- Kimura, Yusuke
- Noda, Yoshinori
- Ishida, Kaoru
- Sato, Nobuhiro
- Saito, Kazuyoshi
- Masuda, Tomoyuki
Producer: 20050826
In:
Oncology reports vol. 13
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2376.
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2377.
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2378.
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2379.
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2380.
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A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. [electronic resource] by
- Sprecher, Eli
- Ishida-Yamamoto, Akemi
- Mizrahi-Koren, Mordechai
- Rapaport, Debora
- Goldsher, Dorit
- Indelman, Margarita
- Topaz, Orit
- Chefetz, Ilana
- Keren, Hanni
- O'brien, Timothy J
- Bercovich, Dani
- Shalev, Stavit
- Geiger, Dan
- Bergman, Reuven
- Horowitz, Mia
- Mandel, Hanna
Producer: 20050923
In:
American journal of human genetics vol. 77
Availability: No items available.
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