Three novel mutations (I506S, S466X, 1651A→T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of Southern German Descent

Annette Deufel; Thomas Deufel; Astrid Golla; Helene Achatz; Rosemarie Bertele‐Harms; Adelbert A. Roscher; Thomas Meitinger

doi:10.1002/humu.1380030111

Three novel mutations (I506S, S466X, 1651A→T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of Southern German Descent

Annette Deufel
, Thomas Deufel
, Astrid Golla
, Helene Achatz
, Rosemarie Bertele‐Harms
, Adelbert A. Roscher
, Thomas Meitinger

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

7 Scopus citations

Original language	English
Pages (from-to)	64-66
Number of pages	3
Journal	Human Mutation
Volume	3
Issue number	1
DOIs	https://doi.org/10.1002/humu.1380030111
State	Published - 1994
Externally published	Yes

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10.1002/humu.1380030111

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title = "Three novel mutations (I506S, S466X, 1651A→T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of Southern German Descent",

author = "Annette Deufel and Thomas Deufel and Astrid Golla and Helene Achatz and Rosemarie Bertele‐Harms and Roscher, \{Adelbert A.\} and Thomas Meitinger",

year = "1994",

doi = "10.1002/humu.1380030111",

language = "English",

volume = "3",

pages = "64--66",

journal = "Human Mutation",

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T1 - Three novel mutations (I506S, S466X, 1651A→T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of Southern German Descent

AU - Deufel, Annette

AU - Deufel, Thomas

AU - Golla, Astrid

AU - Achatz, Helene

AU - Bertele‐Harms, Rosemarie

AU - Roscher, Adelbert A.

AU - Meitinger, Thomas

PY - 1994

Y1 - 1994

UR - https://www.scopus.com/pages/publications/0027954565

U2 - 10.1002/humu.1380030111

DO - 10.1002/humu.1380030111

M3 - Article

C2 - 7509683

AN - SCOPUS:0027954565

SN - 1059-7794

VL - 3

SP - 64

EP - 66

JO - Human Mutation

JF - Human Mutation

IS - 1

ER -

Three novel mutations (I506S, S466X, 1651A→T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of Southern German Descent

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