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38 results

  1. Hermansky-Pudlak Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1287
    ... of the United States Copyright Act, the GeneReview "Hermansky-Pudlak Syndrome" is in the public domain in the United States of America. References Literature Cited Ammann S, Schulz A, Krageloh-Mann ...
  2. Pulmonary Fibrosis 
    https://medlineplus.gov/pulmonaryfibrosis.html
    Pulmonary fibrosis (Idiopathic pulmonary fibrosis or IPF) is a condition where the tissue deep in the lungs becomes scarred over time. Find symptoms. ... Pulmonary fibrosis ...
  3. Chediak-Higashi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK5188
    ... selection criteria, click here . MedlinePlus Chediak-Higashi syndrome Hermansky-Pudlak Syndrome Network, Inc. Phone: 800-789-9HPS Fax: 516- ... in clinical research regarding Chediak-Higashi syndrome and Hermansky-Pudlak syndrome . She would be happy to communicate with persons ...
  4. Genetics of Skin Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65895
    ... type 3) MYO5A , RAB27A , MLPH Pigment granule transport Hermansky-Pudlak syndrome HPS1 , HPS2/AP3B1 , HPS3 , HPS4 , HPS5 , HPS6 , HPS7/ ... lungs and gastrointestinal tract. This syndrome, known as Hermansky-Pudlak syndrome, is inherited in an autosomal recessive manner but ...
  5. Oculocutaneous Albinism and Ocular Albinism Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK590568
    ... 1 to 4 [ Kuht et al 2022 ]. In Hermansky-Pudlak syndrome , a syndromic OCA, foveal hypoplasia ranges from grades ... BLOC1S5 BLOC1S6 DTNBP1 HPS1 HPS3 HPS4 HPS5 HPS6 Hermansky-Pudlak syndrome (HPS) 4% Nearly all children w/HPS-related ...
  6. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/hermansky-pudlak-syndrome</url><title >Hermansky-Pudlak syndrome</title><other_names >< ...
  7. Resources for Genetics Professionals — Genes with Highly Homologous Gene Family Members or a Pseudogene(s) - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK535152
    ... 2 pseudogenes Brugada syndrome <1% HPS1 11 LOC100500719 Hermansky-Pudlak syndrome 75% of Puerto Ricans; 44% of individuals not ... Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection. Hum ...
  8. Educational Materials — Genetic Testing: Current Approaches - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK279899
    ... Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection. Hum ...
  9. G6PC3 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK285321
    ... type 1b Griscelli syndrome type 2 (OMIM 607624 ) Hermansky-Pudlak syndrome type 2 Immunodeficiency due to defect in MAPBP- ... posted live 10 September 2014 (sb) Original submission References Literature Cited Alangari AA, Alsultan A, Osman ME, ...
  10. Oculocutaneous Albinism Type 4 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1510
    ... formerly C10orf11 ) AR Relatively severe impaired visual acuity Hermansky-Pudlak syndrome (HPS) HPS1 AP3B1 ( HPS2 ) HPS3 HPS4 HPS5 HPS6 ... posted live 21 April 2005 (mb) Original submission References Literature Cited Asuquo ME, Ngim O, Ebughe G, ...
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