Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene en functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency

S Akaboshi; Boris Hogema; A Novelletto; P Malaspina; GS Salamons; GD Maropoulos; C Jakobs; M Grompe; KM Gibson

doi:10.1002/humu.10288

Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene en functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency

S Akaboshi, Boris Hogema, A Novelletto, P Malaspina, GS Salamons, GD Maropoulos, C Jakobs, M Grompe, KM Gibson

Biochemistry

Research output: Contribution to journal › Article › Academic › peer-review

104 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	442-450
Number of pages	9
Journal	Human Mutation
Volume	22
DOIs	https://doi.org/10.1002/humu.10288
Publication status	Published - 2003

Access to Document

10.1002/humu.10288

http://hdl.handle.net/1765/61447

Cite this

Akaboshi, S., Hogema, B., Novelletto, A., Malaspina, P., Salamons, GS., Maropoulos, GD., Jakobs, C., Grompe, M., & Gibson, KM. (2003). Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene en functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. Human Mutation, 22, 442-450. https://doi.org/10.1002/humu.10288

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author = "S Akaboshi and Boris Hogema and A Novelletto and P Malaspina and GS Salamons and GD Maropoulos and C Jakobs and M Grompe and KM Gibson",

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doi = "10.1002/humu.10288",

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Akaboshi, S, Hogema, B, Novelletto, A, Malaspina, P, Salamons, GS, Maropoulos, GD, Jakobs, C, Grompe, M & Gibson, KM 2003, 'Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene en functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency', Human Mutation, vol. 22, pp. 442-450. https://doi.org/10.1002/humu.10288

TY - JOUR

T1 - Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene en functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency

AU - Akaboshi, S

AU - Hogema, Boris

AU - Novelletto, A

AU - Malaspina, P

AU - Salamons, GS

AU - Maropoulos, GD

AU - Jakobs, C

AU - Grompe, M

AU - Gibson, KM

PY - 2003

Y1 - 2003

U2 - 10.1002/humu.10288

DO - 10.1002/humu.10288

M3 - Article

SN - 1059-7794

VL - 22

SP - 442

EP - 450

JO - Human Mutation

JF - Human Mutation

ER -