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Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family.

The occurrence of cystic fibrosis is very rare in the Asian population. Carriers of the mutations most commonly found in Caucasians were not detected in a large Asian population sample of almost 900 chromosomes. However, an affected Pakistani child born to consanguineous parents was further investig...

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Hlavní autoři: Curtis, A, Richardson, R J, Boohene, J, Jackson, A, Nelson, R, Bhattacharya, S S
Médium: Artigo
Jazyk:Inglês
Vydáno: 1993
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016278/
https://ncbi.nlm.nih.gov/pubmed/7680378
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