Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype (Q24534213)
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(P31) (Q13442814)
(P304) 1321-9
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(P577) +1999-11-00T00:00:00Z
(P921) (Q181600)
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(P1476) "Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype" (language: en)
(P2093) G Millat
C Marçais
M A Rafi
T Yamamoto
J A Morris
P G Pentchev
K Ohno
D A Wenger
M T Vanier
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