Assignment of the aspartylglucosaminidase gene (AGA) to 4q33----q35 based on decreased activity in a girl with a 46,XX,del(4)(q33) karyotype

J. Engelen; A. Hamers; C. Schrander-Stumpel; H. Mulder; B. Poorthuis

doi:10.1159/000133338

Assignment of the aspartylglucosaminidase gene (AGA) to 4q33----q35 based on decreased activity in a girl with a 46,XX,del(4)(q33) karyotype

J. Engelen
, A. Hamers
, C. Schrander-Stumpel
, H. Mulder
, B. Poorthuis

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

Abstract

Aspartylglucosaminuria (AGU) is a recessive autosomally inherited lysosomal storage disorder due to deficiency of the enzyme aspartylglucosaminidase (AGA). The structural gene for this human enzyme (AGA) has been assigned to the region 4q21----qter. We determined the AGA activity in cultured fibroblasts of a girl with a 46,XX,del(4)(q33) karyotype. The results indicate that the girl is a hemizygote for AGA, permitting the assignment of human AGA to the region 4q33----qter

Original language	English
Pages (from-to)	208-209
Journal	Cytogenetics and cell genetics
Volume	60
Issue number	3-4
DOIs	https://doi.org/10.1159/000133338
Publication status	Published - 1992

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title = "Assignment of the aspartylglucosaminidase gene (AGA) to 4q33----q35 based on decreased activity in a girl with a 46,XX,del(4)(q33) karyotype",

abstract = "Aspartylglucosaminuria (AGU) is a recessive autosomally inherited lysosomal storage disorder due to deficiency of the enzyme aspartylglucosaminidase (AGA). The structural gene for this human enzyme (AGA) has been assigned to the region 4q21----qter. We determined the AGA activity in cultured fibroblasts of a girl with a 46,XX,del(4)(q33) karyotype. The results indicate that the girl is a hemizygote for AGA, permitting the assignment of human AGA to the region 4q33----qter",

author = "J. Engelen and A. Hamers and C. Schrander-Stumpel and H. Mulder and B. Poorthuis",

year = "1992",

doi = "10.1159/000133338",

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T1 - Assignment of the aspartylglucosaminidase gene (AGA) to 4q33----q35 based on decreased activity in a girl with a 46,XX,del(4)(q33) karyotype

AU - Engelen, J.

AU - Hamers, A.

AU - Schrander-Stumpel, C.

AU - Mulder, H.

AU - Poorthuis, B.

PY - 1992

Y1 - 1992

N2 - Aspartylglucosaminuria (AGU) is a recessive autosomally inherited lysosomal storage disorder due to deficiency of the enzyme aspartylglucosaminidase (AGA). The structural gene for this human enzyme (AGA) has been assigned to the region 4q21----qter. We determined the AGA activity in cultured fibroblasts of a girl with a 46,XX,del(4)(q33) karyotype. The results indicate that the girl is a hemizygote for AGA, permitting the assignment of human AGA to the region 4q33----qter

AB - Aspartylglucosaminuria (AGU) is a recessive autosomally inherited lysosomal storage disorder due to deficiency of the enzyme aspartylglucosaminidase (AGA). The structural gene for this human enzyme (AGA) has been assigned to the region 4q21----qter. We determined the AGA activity in cultured fibroblasts of a girl with a 46,XX,del(4)(q33) karyotype. The results indicate that the girl is a hemizygote for AGA, permitting the assignment of human AGA to the region 4q33----qter

U2 - 10.1159/000133338

DO - 10.1159/000133338

M3 - Article

C2 - 1505217

SN - 0301-0171

VL - 60

SP - 208

EP - 209

JO - Cytogenetics and cell genetics

JF - Cytogenetics and cell genetics

IS - 3-4

ER -

Assignment of the aspartylglucosaminidase gene (AGA) to 4q33----q35 based on decreased activity in a girl with a 46,XX,del(4)(q33) karyotype

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