Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency

Astrid Golla; Annette Deufel; Christa Aulehla‐Scholz; Ingolf Böhm; Bruno Hilz; Thomas Meitinger; Thomas Deufel

doi:10.1002/humu.1380030112

Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency

Astrid Golla
, Annette Deufel
, Christa Aulehla‐Scholz
, Ingolf Böhm
, Bruno Hilz
, Thomas Meitinger
, Thomas Deufel

Ludwig-Maximilians-Universität München
Abteilung Medizinische Genetik
Labor Dr. Waldenmaier
Technical University of Munich

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

3 Scopus citations

Original language	English
Pages (from-to)	67-68
Number of pages	2
Journal	Human Mutation
Volume	3
Issue number	1
DOIs	https://doi.org/10.1002/humu.1380030112
State	Published - 1994
Externally published	Yes

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

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10.1002/humu.1380030112

Cite this

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title = "Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency",

author = "Astrid Golla and Annette Deufel and Christa Aulehla‐Scholz and Ingolf B{\"o}hm and Bruno Hilz and Thomas Meitinger and Thomas Deufel",

year = "1994",

doi = "10.1002/humu.1380030112",

language = "English",

volume = "3",

pages = "67--68",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "John Wiley and Sons Inc.",

number = "1",

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TY - JOUR

T1 - Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency

AU - Golla, Astrid

AU - Deufel, Annette

AU - Aulehla‐Scholz, Christa

AU - Böhm, Ingolf

AU - Hilz, Bruno

AU - Meitinger, Thomas

AU - Deufel, Thomas

PY - 1994

Y1 - 1994

UR - https://www.scopus.com/pages/publications/0028153853

U2 - 10.1002/humu.1380030112

DO - 10.1002/humu.1380030112

M3 - Article

C2 - 7509684

AN - SCOPUS:0028153853

SN - 1059-7794

VL - 3

SP - 67

EP - 68

JO - Human Mutation

JF - Human Mutation

IS - 1

ER -

Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency

UN SDGs

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