Results
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1001.
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Application whole exome sequencing for the clinical molecular diagnosis of patients with Duchenne muscular dystrophy; identification of four novel nonsense mutations in four unrelated Chinese DMD patients. [electronic resource] by
- Zhang, Yan
- Yang, Weikang
- Wen, Guoming
- Wu, Yanxia
- Jing, Zhiliang
- Li, Dazhou
- Tang, Minshan
- Liu, Guanglong
- Wei, Xuxuan
- Zhong, Yan
- Li, Yanhua
- Deng, Yongjian
Producer: 20190625
In:
Molecular genetics & genomic medicine vol. 7
Availability: No items available.
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1002.
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1003.
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Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb. [electronic resource] by
- Laitila, Jenni M
- McNamara, Elyshia L
- Wingate, Catherine D
- Goullee, Hayley
- Ross, Jacob A
- Taylor, Rhonda L
- van der Pijl, Robbert
- Griffiths, Lisa M
- Harries, Rachel
- Ravenscroft, Gianina
- Clayton, Joshua S
- Sewry, Caroline
- Lawlor, Michael W
- Ottenheijm, Coen A C
- Bakker, Anthony J
- Ochala, Julien
- Laing, Nigel G
- Wallgren-Pettersson, Carina
- Pelin, Katarina
- Nowak, Kristen J
Producer: 20201223
In:
Acta neuropathologica communications vol. 8
Availability: No items available.
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1004.
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1005.
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1006.
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1007.
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1008.
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1009.
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1010.
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1011.
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A nonsense mutation (R220X) in the alpha-galactosidase A gene causes typical Fabry disease in both genders. [electronic resource] by
- Maki, N
- Komatsuda, A
- Wakui, H
- Oyama, Y
- Kodama, T
- Ohtani, H
- Kigawa, A
- Aiba, N
- Imai, H
- Motegi, M
- Yamaguchi, A
- Sawada, K
Producer: 20050317
In:
Clinical nephrology vol. 61
Availability: No items available.
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1012.
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1013.
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1014.
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1015.
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1016.
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1017.
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1018.
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1019.
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1020.
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