✦ LIBER ✦

Identification of a novel R552Q mutation in exon 13 of the β-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa

✍ Scribed by Diana Valverde; Montserrat Baiget; Ramón Seminago; Elisabeth Del Rio; Blanca Garcia-Sandoval; Teresa Del Rio; Mdnica Bayés; Susana Balcells; Amalia Martinez; Daniel Grinberg; Carmen Ayuso

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 218 KB
Volume: 8
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380080403

No coin nor oath required. For personal study only.

✦ 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.

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