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43 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. Oculocutaneous Albinism Type 4 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1510
    ... Oculocutaneous Albinism Type 1 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. Lewis RA. GeneReviews(®). 1993 Review Hermansky-Pudlak Syndrome. [GeneReviews(®). 1993] Review Hermansky-Pudlak Syndrome. Introne WJ, ...
  4. 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 ...
  5. 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 ...
  6. Oculocutaneous Albinism and Ocular Albinism Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK590568
    ... 1 to 4 [ Kuht et al 2022a ]. 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 ...
  7. Poikiloderma with Neutropenia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK459118
    ... K, Cunniff CM, Kucine N. GeneReviews(®). 1993 Review Hermansky-Pudlak Syndrome. [GeneReviews(®). 1993] Review Hermansky-Pudlak Syndrome. Introne WJ, Huizing M, Malicdan MCV, O'Brien ...
  8. Werner Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1514
    ... Anemia. Mehta PA, Ebens C. GeneReviews(®). 1993 Review Hermansky-Pudlak Syndrome. [GeneReviews(®). 1993] Review Hermansky-Pudlak Syndrome. Introne WJ, ...
  9. Xeroderma Pigmentosum - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1397
    ... Anemia. Mehta PA, Ebens C. GeneReviews(®). 1993 Review Hermansky-Pudlak Syndrome. [GeneReviews(®). 1993] Review Hermansky-Pudlak Syndrome. Introne WJ, ...
  10. 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 ...
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