Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB

Journal of Medical Genetics

Volumn 48, Issue 3, 2011, Pages 205-209

  Tanaka, Takeshi ^a   Motoi, Natsuki ^b   Tsuchihashi, Yoshiko ^a   Tazawa, Ryushi ^b   Kaneko, Chinatsu ^b   Nei, Takahito ^b   Yamamoto, Toshiyuki ^c   Hayashi, Tomayoshi ^d   Tagawa, Tsutomu ^e   Nagayasu, Takeshi ^e   Kuribayashi, Futoshi ^f   Ariyoshi, Koya ^a   Nakata, Koh ^b   Morimoto, Konosuke ^a  

^a NAGASAKI UNIVERSITY   (Japan)

^b NIIGATA UNIVERSITY MEDICAL AND DENTAL HOSPITAL   (Japan)

^c TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^d NAGASAKI UNIVERSITY HOSPITAL   (Japan)

^e NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^f KAWASAKI MEDICAL SCHOOL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR; GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR RECEPTOR; NUCLEIC ACID BASE; STAT5 PROTEIN;

ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLOOD CELL; CASE REPORT; CHROMOSOME 22; CSF2RA GENE; EXON; FEMALE; GENE; GENE DELETION; GENETIC DISORDER; GENETIC SCREENING; HOMOZYGOTE; HUMAN; LUNG ALVEOLUS PROTEINOSIS; NUCLEOTIDE SEQUENCE; ONSET AGE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PHOSPHORYLATION; RESPIRATORY FAILURE; SIGNAL TRANSDUCTION; SYMPTOM;

ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; EXONS; FEMALE; GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR; HUMANS; PULMONARY ALVEOLAR PROTEINOSIS; RECEPTORS, GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR; RESPIRATORY INSUFFICIENCY; SIGNAL TRANSDUCTION;

EID: 79951814186     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.082586     Document Type: Article

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