Literature DB >> 4812952

The use of biochemical data in screening for mutant alleles and in genetic counselling.

R J Gold, U R Maag, J L Neal, C R Scriver.   

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Year:  1974        PMID: 4812952     DOI: 10.1111/j.1469-1809.1974.tb01838.x

Source DB:  PubMed          Journal:  Ann Hum Genet        ISSN: 0003-4800            Impact factor:   1.670


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  22 in total

1.  Application of the lod method to the detection of linkage between a quantitative trait and a qualitative marker: a simulation experiment.

Authors:  K Lange; M A Spence; M B Frank
Journal:  Am J Hum Genet       Date:  1976-03       Impact factor: 11.025

2.  Heterozygote detection in phenylketonuria. Measurement of discriminatory ability and interpretation of the phenylalanine loading test by determination of the heterozygote likelihood ratio.

Authors:  A Westwood; D N Raine
Journal:  J Med Genet       Date:  1975-12       Impact factor: 6.318

3.  Screening for Tay-Sachs disease.

Authors:  J A Lowden; M Jones
Journal:  Can Med Assoc J       Date:  1974-11-02       Impact factor: 8.262

4.  Improved detection of beta-thalassaemia carriers by a two-test method.

Authors:  M Tammis-Hadjopoulos; R J Gold; U R Maag; J D Metrakos; C R Scriver
Journal:  Hum Genet       Date:  1977-10-14       Impact factor: 4.132

5.  Bias of the contribution of single-locus effects to the variance of a quantitative trait.

Authors:  E Boerwinkle; C F Sing
Journal:  Am J Hum Genet       Date:  1986-07       Impact factor: 11.025

6.  Letter: Screening for Tay-Sachs disease.

Authors: 
Journal:  Can Med Assoc J       Date:  1974-11-02       Impact factor: 8.262

7.  Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I. Statistical methods.

Authors:  R M Cantor; J S Lim; C Roy; M M Kaback
Journal:  Am J Hum Genet       Date:  1985-09       Impact factor: 11.025

8.  Apparent hexosaminidase B deficiency in two healthy members of a pedigree.

Authors:  P Hechtman; A Rowlands
Journal:  Am J Hum Genet       Date:  1979-07       Impact factor: 11.025

9.  Severity of mutation in the phenylalanine hydroxylase gene influences phenylalanine metabolism in phenylketonuria and hyperphenylalaninaemia heterozygotes.

Authors:  E Svensson; L Iselius; L Hagenfeldt
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

10.  Tay-Sachs disease heterozygote detection in Brazil: comparison between tears and leukocytes as beta-hexosaminidase A source.

Authors:  M S Buchalter; C M Wannmacher; M Wajner
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

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