(Q35882478)

10 August 2017

1995 William Allan Award address. Human genetics: a discipline at risk for fragmentation (English)

1 reference

10 August 2017

1 reference

K Hirschhorn

1

1 reference

PMC publication ID

1914967

10 August 2017

language of work or name

English

0 references

publication date

1 January 1996

1 reference

American Journal of Human Genetics

10 August 2017

1 reference

10 August 2017

58

1 reference

10 August 2017

1

1 reference

10 August 2017

1-6

1 reference

Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing

10 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00720.X

Identical 3250-bp deletion between two AluI repeats in the ADA genes of unrelated ADA-SCID patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00720.X

Linkage between a PvuII restriction fragment length polymorphism and G6PD A-202A/376G: evidence for a single origin of the common G6PD A- mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00720.X

The CpG dinucleotide and human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00720.X

The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00720.X

Products of two common alleles at the locus for human placental alkaline phosphatase differ by seven amino acids

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00720.X

Hot spot mutations in adenosine deaminase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00720.X

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00720.X

Analysis of gene expression using Simian Virus 40 vectors

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00720.X

A single nucleotide base transition is the basis of the common human glucose-6-phosphate dehydrogenase variant A (+).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00720.X

Cloning of human adenosine deaminase cDNA and expression in mouse cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00720.X

Sequence of human adenosine deaminase cDNA including the coding region and a small intron

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00720.X

Complete sequence and structure of the gene for human adenosine deaminase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00720.X

10.1111/J.1469-1809.1994.TB00720.X

21 January 2018

Identifiers

DOI

1 reference

10 August 2017

1 reference

PMC publication ID

1914967

10 August 2017

PubMed publication ID

8554045

1 reference