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1997 | 1 |
2014 | 1 |
2024 | 0 |
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Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality.
Hum Mutat. 2014 Mar;35(3):350-5. doi: 10.1002/humu.22498. Epub 2014 Jan 13.
Hum Mutat. 2014.
PMID: 24357517
The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees.
Claes S, Devriendt K, Lagae L, Ceulemans B, Dom L, Casaer P, Raeymaekers P, Cassiman JJ, Fryns JP.
Claes S, et al.
Ann Neurol. 1997 Sep;42(3):360-4. doi: 10.1002/ana.410420313.
Ann Neurol. 1997.
PMID: 9307258
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