Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3–CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain

Author： Bell J.  

Publisher： Oxford University Press

E-ISSN： 0964-6906|10|8|797-806

ISSN： 1460-2083

Source： Human Molecular Genetics, Vol.10, Iss.8, 2001-04, pp. : 797-806

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