Hermansky-Pudlak syndrome with a novel mutation

Internal Medicine

Volumn 44, Issue 7, 2005, Pages 733-738

  Iwakawa, Jun ^a   Matsuyama, Wataru ^a   Watanabe, Masaki ^a   Yamamoto, Masuki ^a   Oonakahara, Ken Ichi ^a   Machida, Kentarou ^a   Higashimoto, Ikkou ^a   Niiyama, Takahito ^a   Osame, Mitsuhiro ^a   Arimura, Kimiyoshi ^a  

^a KAGOSHIMA UNIVERSITY HOSPITAL   (Japan)

Author keywords

Codon178; Exon20; HPS1; Mutation

Indexed keywords

CEROID; CYSTEINE; DNA; GENE PRODUCT; PROTEIN HPS1; UNCLASSIFIED DRUG;

ADULT; ALBINISM; ARTICLE; CASE REPORT; CHROMOSOME 10Q; CODON; COMPUTER ASSISTED TOMOGRAPHY; CONSANGUINEOUS MARRIAGE; COUGHING; DYSPNEA; ELECTRON MICROSCOPY; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; LUNG BIOPSY; LUNG DISEASE; LYSOSOME; MEDICAL ASSESSMENT; OCULAR ALBINISM; OCULOCUTANEOUS ALBINISM; PERIODIC ACID SCHIFF STAIN; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; STOP CODON; THORAX SURGERY; THROMBOCYTE DYSFUNCTION;

COMORBIDITY; FEMALE; FRAMESHIFT MUTATION; HERMANSKI-PUDLAK SYNDROME; HUMANS; LUNG; LUNG DISEASES, INTERSTITIAL; MEMBRANE PROTEINS; MIDDLE AGED; SEQUENCE ANALYSIS, DNA;

EID: 23244431962     PISSN: 09182918     EISSN: None     Source Type: Journal    
DOI: 10.2169/internalmedicine.44.733     Document Type: Article

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