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Literature DB >> 437774

Evidence for a null allele at the esterase D (EC 3.1.1.1) locus.

R S Sparkes, S Targum, E Gershon, G F Sensabaugh, M C Sparkes, M Crist.

Abstract

Electorphoretic and quantitative assays of esterase D in a Caucasian family demonstrate the inheritance of a null allele, which was observed in the heterozygous state in six individuals.

Entities: Gene

Mesh：

Substances：
Esterases

Year: 1979 PMID： 437774 DOI： 10.1007/bf00273315

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

4 in total

1. A preliminary genetic interpretation of the esterase isozymes of human tissues.

Authors: P M Coates; M A Mestriner; D A Hopkinson
Journal: Ann Hum Genet Date: 1975-07 Impact factor: 1.670

2. Esterase D: a new human polymorphism.

Authors: D A Hopkinson; M A Mestriner; J Cortner; H Harris
Journal: Ann Hum Genet Date: 1973-10 Impact factor: 1.670

3. The red-cell glutamic-pyruvate transaminase, carbonic anhydrase I and II and esterase D polymorphisms in the Ambo populations of South West Africa, with evidence for the existence of an EsDo allele.

Authors: M P Marks; T Jenkins; G T Nurse
Journal: Hum Genet Date: 1977-06-10 Impact factor: 4.132

4. Purification and substrate specificity of polymorphic forms of esterase D from human erythrocytes.

Authors: E M Scott; R C Wright
Journal: Am J Hum Genet Date: 1978-01 Impact factor: 11.025

4 in total

26 in total

1. Involvement of the region 13q14 in a patient with adamantinoma of the long bones.

Authors: G Sozzi; M Miozzo; S Di Palma; A Minelli; C Calderone; C Danesino; U Pastorino; M A Pierotti; G Della Porta
Journal: Hum Genet Date: 1990-10 Impact factor: 4.132

2. Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome.

Authors: R A Lewis
Journal: Trans Am Ophthalmol Soc Date: 1989

Evidence for a null allele at the esterase D (EC 3.1.1.1) locus.

1. A preliminary genetic interpretation of the esterase isozymes of human tissues.

2. Esterase D: a new human polymorphism.

3. The red-cell glutamic-pyruvate transaminase, carbonic anhydrase I and II and esterase D polymorphisms in the Ambo populations of South West Africa, with evidence for the existence of an EsDo allele.

4. Purification and substrate specificity of polymorphic forms of esterase D from human erythrocytes.

1. Involvement of the region 13q14 in a patient with adamantinoma of the long bones.

2. Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome.

3. Interstitial deletion of chromosome 13 involving the region 13q14.

4. Overexpression of esterase D in kidney from trisomy 13 fetuses.

5. Molecular analysis of esterase D polymorphism.

6. Differential enzyme activities in human esterase D phenotypes.

7. [A new allele of AK-Polymorphism: AK0 (author's transl)].

8. Location of the retinoblastoma susceptibility gene(s) and the human esterase D locus.

9. A null allele of esterase D is a marker for genetic events in retinoblastoma formation.

10. Low incidence of deletion of the esterase D locus in retinoblastoma patients.