A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2

scientific article

A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2 is …
instance of (P31):
scholarly articleQ13442814

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P932PMC publication ID1801499
P698PubMed publication ID7573033

P2093author name stringJ G White
R A King
W S Oetting
S C Wildenberg
C Almodóvar
M Krumwiede
P2860cites workStrategies for multilocus linkage analysis in humansQ27860521
Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studiesQ28184387
The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) geneQ28185427
Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasisQ28236582
Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mappingQ28242330
Hermansky-Pudlak syndrome in a Swiss populationQ28257910
Homozygosity mapping: a way to map human recessive traits with the DNA of inbred childrenQ29615807
Easy calculations of lod scores and genetic risks on small computersQ29616143
Faster sequential genetic linkage computationsQ29618265
Albinism and Hermansky-Pudlak syndrome in Puerto RicoQ34638371
Hermansky-Pudlak syndrome with granulomatous colitisQ34718015
A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto RicoQ35194306
Dinucleotide repeat polymorphism at the human tyrosinase geneQ40509738
Hermansky-Pudlak syndrome: an immunologic assessment of 15 casesQ41260530
Hermansky-Pudlak syndrome. Pulmonary manifestations of a ceroid storage disorderQ41599712
Hermansky-Pudlak syndrome (HPS): A proposed block in glutathione peroxidaseQ43413310
The role of ceroid in lung and gastrointestinal disease in Hermansky-Pudlak syndromeQ44111834
Avoiding recomputation in linkage analysis.Q52374502
Construction of human linkage maps: likelihood calculations for multilocus linkage analysis.Q52649621
Fatal bleeding following tooth extraction. Hermansky-Pudlak-syndromeQ53691293
Linkage of rhm, a recessive gene for resistance to southern corn leaf blight, to RFLP marker loci in maize (Zea mays) seedlings.Q54239798
Hermansky-Pudlak syndrome: a clinicopathologic studyQ64052265
Hermansky-Pudlak syndrome. Ophthalmic findingsQ67939611
Hermansky-Pudlak syndrome (HPS). An epidemiologic studyQ68666214
Elevated urinary dolichol excretion in the Hermansky-Pudlak syndrome. Indicator of lysosomal dysfunctionQ68816181
Ophthalmic manifestations of the Hermansky-Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis)Q70301981
Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndromeQ70368769
Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase geneQ70668885
A study of the origin of 'shadow bands' seen when typing dinucleotide repeat polymorphisms by the PCRQ70742919
The mouse pale ear pigment mutant as a possible animal model for human platelet storage pool deficiencyQ71431038
Molecular map of chromosome 19 including three genes affecting bleeding time: ep, ru, and bmQ72090621
Jewish diseases and originsQ72161226
Repeated sequences as genetic markers in pooled tissue samplesQ72220038
Pathogenesis of pulmonary fibrosis: platelet-derived growth factor precedes structural alterations in the Hermansky-Pudlak syndromeQ72332989
Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genomeQ72345733
An alternate universal forward primer for improved automated DNA sequencing of M13Q72633428
PCR-amplification of simple sequence repeat variants from pooled DNA samples for rapidly mapping new mutations of the mouseQ72802968
P433issue4
P407language of work or nameEnglishQ1860
P921main subjectHermansky-Pudlak syndromeQ1506216
P304page(s)755-65
P577publication date1995-10-01
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleA gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2
P478volume57

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cites work (P2860)
Q34470405Albinism: modern molecular diagnosis
Q37443271Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1.
Q24536172Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein
Q35249888Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome
Q24626239Genetic interstitial lung disease
Q34388954Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy
Q24629069Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico
Q36373332Genetic testing in diffuse parenchymal lung disease
Q44720111Hermansky-Pudlak syndrome in pregnancy: A case report
Q55288445Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood.
Q24539375Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23.
Q57281789Mart1 is located on mouse chromosome 19 and is excluded as a candidate for ep and ru
Q24675801Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3
Q35129447Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking
Q24538795Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity
Q34514157Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).
Q36034514Pigment, platelets, and Hermansky-Pudlak in human and mouse
Q36560640The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome
Q36087778Typing Plasmodium yoelii microsatellites using a simple and affordable fluorescent labeling method

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