105 In addition to the E292V mutation, five additional missense variants (N1076K, G1302E, P1301L, T1114M, E690K) and three splice junction site mutations (c3704-1 GϾT, c1742-9 GϾA, c1612-2 AϾG) that would likely alter RNA splicing were identified.

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ABCA3 p.Pro1301Leu 15976379:105:86

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121 Some of this variability may reflect different stages of the disease and/or patchy distribution of disease within the lung, as well as TABLE 2. CHARACTERISTICS OF CHILDREN WITH CHRONIC LUNG DISEASE WHO SCREENED POSITIVE FOR E292V MUTATION Patient 5 Patient 6 Patient 7 Patient 8 Patient 9 Patient 10 Patient 11 Race White White White White White Hispanic White Age of symptoms Neonate Neonate Neonate 7 yr 5 yr Neonate Neonate Sex Female Female Male Male Male Male Male Lung biopsy Not done Not done Not done IP/PF Not done BO/fibrosis Normal Current age NA 11 yr 11 yr 11 yr 9 yr NA 6 yr Family history Yes No Yes Yes Yes No No Outcome Died at 11 yr Alive Alive Alive Alive Died at 6 mo Alive ABCA3 mutations E292V/c1612-2 E292V/G1302E E292V/T1114M E292V/E690K E292V/E690K E292V/none E292V/none AϾG/P1301L identified identified Definition of abbreviations: BO ϭ bronchiolitis obliterans; IP ϭ interstitial pneumonitis; NA ϭ not available; PF ϭ pulmonary fibrosis.

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ABCA3 p.Pro1301Leu 15976379:121:809

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