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Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. [electronic resource] by
- Burkitt Wright, Emma M M
- Spencer, Helen L
- Daly, Sarah B
- Manson, Forbes D C
- Zeef, Leo A H
- Urquhart, Jill
- Zoppi, Nicoletta
- Bonshek, Richard
- Tosounidis, Ioannis
- Mohan, Meyyammai
- Madden, Colm
- Dodds, Annabel
- Chandler, Kate E
- Banka, Siddharth
- Au, Leon
- Clayton-Smith, Jill
- Khan, Naz
- Biesecker, Leslie G
- Wilson, Meredith
- Rohrbach, Marianne
- Colombi, Marina
- Giunta, Cecilia
- Black, Graeme C M
Producer: 20110817
In:
American journal of human genetics vol. 88
Availability: No items available.
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An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures. [electronic resource] by
- Bader, Hannah L
- Ruhe, Alison L
- Wang, Lauren W
- Wong, Aaron K
- Walsh, Kari F
- Packer, Rebecca A
- Mitelman, Jonathan
- Robertson, Kathryn R
- O'Brien, Dennis P
- Broman, Karl W
- Shelton, G Diane
- Apte, Suneel S
- Neff, Mark W
Producer: 20110218
In:
PloS one vol. 5
Availability: No items available.
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