An Asn>Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity

S Regis; M Filocamo; F Corsolini; F Caroli; JLM Keulemans; Otto Diggelen; R Gatti

An Asn>Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity

S Regis, M Filocamo, F Corsolini, F Caroli, JLM Keulemans, Otto Diggelen, R Gatti

Clinical Genetics

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

28 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	125-130
Number of pages	6
Journal	European Journal of Human Genetics
Volume	7
Publication status	Published - 1999

Research programs

EMC MGC-02-96-01

Cite this

Regis, S., Filocamo, M., Corsolini, F., Caroli, F., Keulemans, JLM., Diggelen, O., & Gatti, R. (1999). An Asn>Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity. European Journal of Human Genetics, 7, 125-130.

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title = "An Asn>Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity",

author = "S Regis and M Filocamo and F Corsolini and F Caroli and JLM Keulemans and Otto Diggelen and R Gatti",

year = "1999",

language = "Undefined/Unknown",

volume = "7",

pages = "125--130",

journal = "European Journal of Human Genetics",

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Regis, S, Filocamo, M, Corsolini, F, Caroli, F, Keulemans, JLM, Diggelen, O & Gatti, R 1999, 'An Asn>Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity', European Journal of Human Genetics, vol. 7, pp. 125-130.

An Asn>Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity. / Regis, S; Filocamo, M; Corsolini, F et al.
In: European Journal of Human Genetics, Vol. 7, 1999, p. 125-130.

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

TY - JOUR

T1 - An Asn>Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity

AU - Regis, S

AU - Filocamo, M

AU - Corsolini, F

AU - Caroli, F

AU - Keulemans, JLM

AU - Diggelen, Otto

AU - Gatti, R

PY - 1999

Y1 - 1999

M3 - Article

SN - 1018-4813

VL - 7

SP - 125

EP - 130

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

ER -