Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome

Human Genetics ◽

10.1007/bf00217444 ◽

1993 ◽

Vol 90 (5) ◽

Author(s):

Suzanne Marcus ◽

Dennis Hellgren ◽

Bo Lambert ◽

SvenPetter F�llstr�m ◽

Jan Wahlstr�m

Keyword(s):

Hypoxanthine Phosphoribosyl Transferase ◽

Phosphoribosyl Transferase ◽

Transferase Gene

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Medical genetics: advances in brief: Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch-Nyhan syndrome

Journal of Medical Genetics ◽

10.1136/jmg.30.5.444-a ◽

1993 ◽

Vol 30 (5) ◽

pp. 444-444

Author(s):

J. C K Barber

Keyword(s):

Medical Genetics ◽

Hypoxanthine Phosphoribosyl Transferase ◽

Phosphoribosyl Transferase ◽

Transferase Gene

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Mutations induced in the hypoxanthine phosphoribosyl transferase gene by three urban air pollutants: acetaldehyde, benzo[a]pyrene diolepoxide, and ethylene oxide.

Environmental Health Perspectives ◽

10.1289/ehp.94102s4135 ◽

1994 ◽

Vol 102 (suppl 4) ◽

pp. 135-138 ◽

Author(s):

B Lambert ◽

B Andersson ◽

T Bastlova ◽

S M Hou ◽

D Hellgren ◽

...

Keyword(s):

Ethylene Oxide ◽

Air Pollutants ◽

Hypoxanthine Phosphoribosyl Transferase ◽

Urban Air ◽

Phosphoribosyl Transferase ◽

Transferase Gene

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Mutations Induced in the Hypoxanthine Phosphoribosyl Transferase Gene by Three Urban Air Pollutants: Acetaldehyde, Benzo[a]pyrene Diolepoxide, and Ethylene Oxide

Environmental Health Perspectives ◽

10.2307/3431943 ◽

1994 ◽

Vol 102 ◽

pp. 135 ◽

Author(s):

Bo Lambert ◽

Bjorn Andersson ◽

Tatiana Bastlova ◽

Sai-Mei Hou ◽

Dennis Hellgren ◽

...

Keyword(s):

Ethylene Oxide ◽

Air Pollutants ◽

Hypoxanthine Phosphoribosyl Transferase ◽

Urban Air ◽

Phosphoribosyl Transferase ◽

Transferase Gene

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Use of the X-chromosome linked hypoxanthine phosphoribosyl transferase gene as a marker of cell monoclonality in hemopoietic malignancies

Leukemia Research ◽

10.1016/0145-2126(88)90047-1 ◽

1988 ◽

Vol 12 (4) ◽

pp. 321-326 ◽

Author(s):

Peter J. Browett ◽

A.Victor Hoffbrand ◽

John D. Norton

Keyword(s):

X Chromosome ◽

Hypoxanthine Phosphoribosyl Transferase ◽

Phosphoribosyl Transferase ◽

Transferase Gene

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Expression of the hypoxanthine phosphoribosyl transferase gene in resting and growth-stimulated human lymphocytes

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression ◽

10.1016/0167-4781(91)90155-f ◽

1991 ◽

Vol 1088 (1) ◽

pp. 77-85 ◽

Author(s):

Ann-Marie Steen ◽

Sahlén Sigrid ◽

Lambert Bo

Keyword(s):

Human Lymphocytes ◽

Hypoxanthine Phosphoribosyl Transferase ◽

Phosphoribosyl Transferase ◽

Transferase Gene

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X-linked polymorphism of hypoxanthine phosphoribosyl transferase gene (HPRT) in Chinese females

Cancer Genetics and Cytogenetics ◽

10.1016/0165-4608(92)90356-d ◽

1992 ◽

Vol 64 (2) ◽

pp. 192 ◽

Author(s):

L.C. Chan ◽

E. Tse ◽

S. Pittaluga

Keyword(s):

Hypoxanthine Phosphoribosyl Transferase ◽

Phosphoribosyl Transferase ◽

Transferase Gene

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Investigation of novel mutation of the hypoxanthine phosphoribosyl-transferase gene caused by a translocation in a patient with Lesch-Nyhan syndrome.

GOUT AND NUCLEIC ACID METABOLISM ◽

10.6032/gnam1999.29.1_21 ◽

2005 ◽

Vol 29 (1) ◽

pp. 21-25

Author(s):

Makiko Mizunuma ◽

Yasukazu Yamada ◽

Nobuaki Wakamatsu ◽

Nobuaki Ogasawara ◽

Toshikazu Yamanouchi ◽

...

Keyword(s):

Novel Mutation ◽

Hypoxanthine Phosphoribosyl Transferase ◽

Phosphoribosyl Transferase ◽

Transferase Gene

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Disparate Enzyme Activity in Erythrocytes and Leukocytes. A VARIANT OF HYPOXANTHINE PHOSPHORIBOSYL-TRANSFERASE DEFICIENCY WITH AN UNSTABLE ENZYME

Journal of Clinical Investigation ◽

10.1172/jci107391 ◽

1973 ◽

Vol 52 (8) ◽

pp. 2068-2074 ◽

Author(s):

Joseph Dancis ◽

Lily C. Yip ◽

Rody P. Cox ◽

Sergio Piomelli ◽

M. Earl Balis

Keyword(s):

Enzyme Activity ◽

Hypoxanthine Phosphoribosyl Transferase ◽

Phosphoribosyl Transferase ◽

Transferase Deficiency

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Quantitative measurement of transcript levels throughout human preimplantation development: analysis of hypoxanthine phosphoribosyl transferase

MHR Basic science of reproductive medicine ◽

10.1093/molehr/7.2.147 ◽

2001 ◽

Vol 7 (2) ◽

pp. 147-154 ◽

Author(s):

D. M. Taylor

Keyword(s):

Quantitative Measurement ◽

Preimplantation Development ◽

Hypoxanthine Phosphoribosyl Transferase ◽

Transcript Levels ◽

Phosphoribosyl Transferase ◽

Development Analysis

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Determination of Activity of the Enzymes Hypoxanthine Phosphoribosyl Transferase (HPRT) and Adenine Phosphoribosyl Transferase (APRT) in Blood Spots on Filter Paper

Current Protocols in Human Genetics ◽

10.1002/0471142905.hg1719s86 ◽

2015 ◽

Vol 86 (1) ◽

Author(s):

Kasie Auler ◽

Robyn Broock ◽

William L. Nyhan

Keyword(s):

Filter Paper ◽

Hypoxanthine Phosphoribosyl Transferase ◽

Phosphoribosyl Transferase ◽

Blood Spots ◽

Adenine Phosphoribosyl Transferase ◽

Determination Of Activity

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