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A novel mutation in the BRCA1 gene in a German early-onset breast cancer family

✍ Scribed by Beate Waindzoch; Klaus Grade; Burkhard Jandrig; Manuela Müller; Peter Schlag; Siegfried Scherneck

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
117 KB
Volume
8
Category
Article
ISSN
1059-7794

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✦ Synopsis

severe pulmonary and intestinal disease including ileus at birth and liver cirrhosis at the age 5 years, whereas the other one developed much better with only mild pulmonary changes. Clinical follow-up evaluation of our patient, a 5-year-old girl, was evocative of an intermediary status. Diagnosis of CF was established from positive sweat test at the age of 21 months. At the present time, she shows pulmonary disease and pancreatic insufficiency but not liver disease and develops well under therapy.

REFERENCES

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