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Article: Biochemical and molecular genetics of cystic fibrosis

TitleBiochemical and molecular genetics of cystic fibrosis
Authors
Issue Date1991
PublisherSpringer New York LLC.
Citation
Advances In Human Genetics, 1991, v. 20, p. 153-266 How to Cite?
AbstractCystic fibrosis (CF) is the most common severe recessive genetic disorder in the Caucasian population. In 1938, D. H. Anderson provided the first comprehensive description of the disease and also introduced the name “cystic fibrosis of the pancreas.” Patients with CF suffer from excessive mucus accumulation resulting in severe clinical consequences in the respiratory, gastrointestinal, and genitourinary tracts (see Table I). All these symptoms are consistent with defects of exocrine glands, as suggested by S. Farber in 1945; he called the disease “mucoviscidosis,” a name still popular in some parts of continental Europe. CF patients also have elevated electrolyte levels in their sweat, an observation which, first described by di Sant’Agnese et al. (1953), became the hallmark for CF diagnosis.
Persistent Identifierhttp://hdl.handle.net/10722/143102
ISBN
ISSN
2011 Impact Factor: -999.999

 

DC FieldValueLanguage
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorBuchwald, Men_HK
dc.date.accessioned2011-10-31T03:24:12Z-
dc.date.available2011-10-31T03:24:12Z-
dc.date.issued1991en_HK
dc.identifier.citationAdvances In Human Genetics, 1991, v. 20, p. 153-266en_HK
dc.identifier.isbn9781468459609-
dc.identifier.issn0065-275Xen_HK
dc.identifier.urihttp://hdl.handle.net/10722/143102-
dc.description.abstractCystic fibrosis (CF) is the most common severe recessive genetic disorder in the Caucasian population. In 1938, D. H. Anderson provided the first comprehensive description of the disease and also introduced the name “cystic fibrosis of the pancreas.” Patients with CF suffer from excessive mucus accumulation resulting in severe clinical consequences in the respiratory, gastrointestinal, and genitourinary tracts (see Table I). All these symptoms are consistent with defects of exocrine glands, as suggested by S. Farber in 1945; he called the disease “mucoviscidosis,” a name still popular in some parts of continental Europe. CF patients also have elevated electrolyte levels in their sweat, an observation which, first described by di Sant’Agnese et al. (1953), became the hallmark for CF diagnosis.-
dc.languageeng-
dc.publisherSpringer New York LLC.-
dc.relation.ispartofAdvances in Human Geneticsen_HK
dc.rightsThe original publication is available at www.springerlink.com-
dc.subject.meshCalcium - metabolism-
dc.subject.meshChlorine - metabolism-
dc.subject.meshChromosome Mapping-
dc.subject.meshCystic Fibrosis - diagnosis - genetics - metabolism-
dc.subject.meshLung - physiopathology-
dc.titleBiochemical and molecular genetics of cystic fibrosisen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0065-275X&volume=20&spage=153&epage=266&date=1991&atitle=Biochemical+and+molecular+genetics+of+cystic+fibrosis-
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1007/978-1-4684-5958-6_4-
dc.identifier.pmid1724873-
dc.identifier.scopuseid_2-s2.0-0025937887en_HK
dc.identifier.volume20en_HK
dc.identifier.spage153en_HK
dc.identifier.epage266en_HK
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridBuchwald, M=7006759922en_HK

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