Preliminary results on the frequency of the ΔF508 mutation in cystic fibrosis patients from the USSR

Patrizia Ronchetto; Marcella Devoto; Aldamaria Puliti; Giovanni Romeo; B. Sokolov; Vjacheslav N. Kalinin; Svetlana Grigorievna Vorsanova; Gannya Vasilievna Krainiaia; Boris Yakovlevich Reznik

doi:10.1007/BF02428294

Preliminary results on the frequency of the ΔF508 mutation in cystic fibrosis patients from the USSR

Patrizia Ronchetto, Marcella Devoto, Aldamaria Puliti, Giovanni Romeo, B. Sokolov, Vjacheslav N. Kalinin, Svetlana Grigorievna Vorsanova, Gannya Vasilievna Krainiaia, Boris Yakovlevich Reznik

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

Abstract

The frequency of the ΔF508 mutation in a sample of 29 cystic fibrosis (CF) families from the USSR is equal to 44.8%, in agreement with previously reported haplotype data. If confirmed on a larger sample of CF patients from the USSR, this result might be indicative of the presence of a larger heterogeneity of CF mutations in the Soviet population than in other European populations.

Original language	English
Pages (from-to)	423-424
Number of pages	2
Journal	Human Genetics
Volume	85
Issue number	4
DOIs	https://doi.org/10.1007/BF02428294
Publication status	Published - Sep 1990

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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title = "Preliminary results on the frequency of the ΔF508 mutation in cystic fibrosis patients from the USSR",

abstract = "The frequency of the ΔF508 mutation in a sample of 29 cystic fibrosis (CF) families from the USSR is equal to 44.8%, in agreement with previously reported haplotype data. If confirmed on a larger sample of CF patients from the USSR, this result might be indicative of the presence of a larger heterogeneity of CF mutations in the Soviet population than in other European populations.",

author = "Patrizia Ronchetto and Marcella Devoto and Aldamaria Puliti and Giovanni Romeo and B. Sokolov and Kalinin, {Vjacheslav N.} and Vorsanova, {Svetlana Grigorievna} and Krainiaia, {Gannya Vasilievna} and Reznik, {Boris Yakovlevich}",

year = "1990",

month = sep,

doi = "10.1007/BF02428294",

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journal = "Human Genetics",

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T1 - Preliminary results on the frequency of the ΔF508 mutation in cystic fibrosis patients from the USSR

AU - Ronchetto, Patrizia

AU - Devoto, Marcella

AU - Puliti, Aldamaria

AU - Romeo, Giovanni

AU - Sokolov, B.

AU - Kalinin, Vjacheslav N.

AU - Vorsanova, Svetlana Grigorievna

AU - Krainiaia, Gannya Vasilievna

AU - Reznik, Boris Yakovlevich

PY - 1990/9

Y1 - 1990/9

N2 - The frequency of the ΔF508 mutation in a sample of 29 cystic fibrosis (CF) families from the USSR is equal to 44.8%, in agreement with previously reported haplotype data. If confirmed on a larger sample of CF patients from the USSR, this result might be indicative of the presence of a larger heterogeneity of CF mutations in the Soviet population than in other European populations.

AB - The frequency of the ΔF508 mutation in a sample of 29 cystic fibrosis (CF) families from the USSR is equal to 44.8%, in agreement with previously reported haplotype data. If confirmed on a larger sample of CF patients from the USSR, this result might be indicative of the presence of a larger heterogeneity of CF mutations in the Soviet population than in other European populations.

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JF - Human Genetics

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ER -

Preliminary results on the frequency of the ΔF508 mutation in cystic fibrosis patients from the USSR

Abstract

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