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A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient. [electronic resource] by
- Maekawa, Motoko
- Iwayama, Yoshimi
- Nakamura, Kazuhiko
- Sato, Miho
- Toyota, Tomoko
- Ohnishi, Tetsuo
- Yamada, Kazuo
- Miyachi, Taishi
- Tsujii, Masatsugu
- Hattori, Eiji
- Maekawa, Nobuo
- Osumi, Noriko
- Mori, Norio
- Yoshikawa, Takeo
Producer: 20091026
In:
Neuroscience letters vol. 462
Availability: No items available.
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5728.
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5730.
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5733.
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Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation. [electronic resource] by
- De Baere, E
- Dixon, M J
- Small, K W
- Jabs, E W
- Leroy, B P
- Devriendt, K
- Gillerot, Y
- Mortier, G
- Meire, F
- Van Maldergem, L
- Courtens, W
- Hjalgrim, H
- Huang, S
- Liebaers, I
- Van Regemorter, N
- Touraine, P
- Praphanphoj, V
- Verloes, A
- Udar, N
- Yellore, V
- Chalukya, M
- Yelchits, S
- De Paepe, A
- Kuttenn, F
- Fellous, M
- Veitia, R
- Messiaen, L
Producer: 20011207
In:
Human molecular genetics vol. 10
Availability: No items available.
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