(Q38528470)

3 September 2017

1 reference

title

Selection for carriers of recessive diseases: a common phenomenon? (English)

1 reference

3 September 2017

Zlotogora J

1

1 reference

3 September 2017

1 November 1998

1 reference

American Journal of Medical Genetics Part A

3 September 2017

1 reference

3 September 2017

80

1 reference

3 September 2017

3

1 reference

3 September 2017

266-268

1 reference

Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia

3 September 2017

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C266%3A%3AAID-AJMG17%3E3.0.CO%3B2-4

Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C266%3A%3AAID-AJMG17%3E3.0.CO%3B2-4

Why are some genetic diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C266%3A%3AAID-AJMG17%3E3.0.CO%3B2-4

Cystic Fibrosis Heterozygote Resistance to Cholera Toxin in the Cystic Fibrosis Mouse Model

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C266%3A%3AAID-AJMG17%3E3.0.CO%3B2-4

β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C266%3A%3AAID-AJMG17%3E3.0.CO%3B2-4

DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C266%3A%3AAID-AJMG17%3E3.0.CO%3B2-4

Salmonella typhi uses CFTR to enter intestinal epithelial cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C266%3A%3AAID-AJMG17%3E3.0.CO%3B2-4

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C266%3A%3AAID-AJMG17%3E3.0.CO%3B2-4

What maintains the frequencies of human genetic diseases?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C266%3A%3AAID-AJMG17%3E3.0.CO%3B2-4

Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C266%3A%3AAID-AJMG17%3E3.0.CO%3B2-4

High incidence of malaria in alpha-thalassaemic children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C266%3A%3AAID-AJMG17%3E3.0.CO%3B2-4

High frequencies of human genetic diseases: founder effect with genetic drift or selection?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981116%2980%3A3%3C266%3A%3AAID-AJMG17%3E3.0.CO%3B2-4

10.1002/(SICI)1096-8628(19981116)80:3<266::AID-AJMG17>3.0.CO;2-4

21 January 2018

Identifiers

DOI

1 reference

3 September 2017

1 reference

PubMed ID

9843051