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Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this Cystic Fibrosis Transmembrane Conductance Regulator mutation does not cause cystic fibrosis
Author(s) -
Derichs N.,
Schuster A.,
Grund I.,
Ernsting A.,
Stolpe C.,
KörtgeJung S.,
Gallati S.,
Stuhrmann M.,
Kozlowski P.,
Ballmann M.
Publication year - 2005
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2005.00437.x
Subject(s) - cystic fibrosis transmembrane conductance regulator , cystic fibrosis , neonatology , medicine , phenotype , mutation , pediatrics , pathology , genetics , biology , gene , pregnancy