Literature DB >> 4442869

[Investigations on the polymorphism of galactose-1-phosphate-uridyl-transferase by means of agarose gel electrophoresis].

P Kühnl, L Nowicki, W Spielmann.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1974        PMID： 4442869

Source DB:  PubMed          Journal:  Humangenetik        ISSN： 0018-7348


× No keyword cloud information.
  4 in total

1.  [Formal genetics of galactose-1-phosphate uridyl transferases (E.C.:2.7.7.12). Investigation of 100 mother-child combinations (author's transl)].

Authors:  S Bissbort; J Kömpf
Journal:  Z Rechtsmed       Date:  1973-05-24

2.  Population genetics of red cell galactose-1-phosphate-uridyl-transferase (EC:2.7.7.12).

Authors:  S Bissbort; J Kömpf
Journal:  Humangenetik       Date:  1972

3.  Partial galactose-1-phosphate uridyltransferase deficiency due to a variant enzyme.

Authors:  R Gitzelmann; J R Poley; A Prader
Journal:  Helv Paediatr Acta       Date:  1967-07

4.  Electrophoretic variation of galactose-1-phosphate uridyltransferase.

Authors:  C K Mathai; E Beutler
Journal:  Science       Date:  1966-12-02       Impact factor: 47.728
  4 in total
  11 in total

1.  A new genetic variant of galactose-1-phosphate uridyl transferase.

Authors:  R Scherz; R Pflugshaupt; R Bütler
Journal:  Hum Genet       Date:  1976-12-29       Impact factor: 4.132

2.  [Polymorphism of human erythrocyte-uridyltransferase (E.C.2.7.7.12). Studies on a sample of Berlin population].

Authors:  W Martin
Journal:  Blut       Date:  1975-01

3.  Probable genetic linkage between autosomal dominant retinitis pigmentosa (RP) and amylase (AMY2): evidence of an RP locus on chromosome 1.

Authors:  M A Spence; R S Sparkes; J R Heckenlively; J T Pearlman; D Zedalis; M Sparkes; M Crist; S Tideman
Journal:  Am J Hum Genet       Date:  1977-07       Impact factor: 11.025

4.  Los Angeles variant of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) in a Mexican family.

Authors:  B Ibarra; G Vaca; J Sánchez-Corona; A Hernández; M L Ramirez; J M Cantú
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

5.  Variants of galactose-1-phosphate uridyl transferase in the Greek populations.

Authors:  A Thomakos; E Beutler; G Stamatoyannopoulos
Journal:  Hum Genet       Date:  1977-05-10       Impact factor: 4.132

6.  Improved technique for electrophoresis of human galactose-1-p uridyl transferase (EC 2.7.7.12).

Authors:  M C Sparkes; M Crist; R S Sparkes
Journal:  Hum Genet       Date:  1977-12-29       Impact factor: 4.132

7.  Prenatal and postnatal diagnostic difficulties in a family with rare alleles of the galactose-1-phosphate uridyl transferase locus.

Authors:  E Christensen; N J Brandt
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

8.  A common mutation associated with the Duarte galactosemia allele.

Authors:  L J Elsas; P P Dembure; S Langley; E M Paulk; L N Hjelm; J Fridovich-Keil
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

9.  A molecular approach to galactosemia.

Authors:  L J Elsas; S Langley; E M Paulk; L N Hjelm; P P Dembure
Journal:  Eur J Pediatr       Date:  1995       Impact factor: 3.183

Review 10.  Partial deficiency of galactose-1-phosphate uridyltransferase.

Authors:  R Gitzelmann; N U Bosshard
Journal:  Eur J Pediatr       Date:  1995       Impact factor: 3.183
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.