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Volumn 29, Issue 2, 2016, Pages 231-235

Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population

Author keywords

[No Author keywords available]

Indexed keywords

ALLELISM; ARTICLE; CLINICAL FEATURE; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC IDENTIFICATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; NONSENSE MUTATION; OCULAR ALBINISM; PAKISTANI; ADOLESCENT; ADULT; ALLELE; CHILD; FEMALE; GENETICS; INFANT; MALE; MIDDLE AGED; PAKISTAN; PATHOLOGY; PEDIGREE; PRESCHOOL CHILD;

EID: 84958650508     PISSN: 17551471     EISSN: 1755148X     Source Type: Journal    
DOI: 10.1111/pcmr.12438     Document Type: Article
Times cited : (19)

References (14)
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  • 2
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    • Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome
    • Badolato, R., Prandini, A., Caracciolo, S. et al. (2012). Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome. Blood 119, 3185-3187.
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    • Badolato, R.1    Prandini, A.2    Caracciolo, S.3
  • 3
    • 79958805251 scopus 로고    scopus 로고
    • A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9
    • Cullinane, A.R., Curry, J.A., Carmona-Rivera, C. et al. (2011). A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. Am. J. Hum. Genet. 88, 778-787.
    • (2011) Am. J. Hum. Genet. , vol.88 , pp. 778-787
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    • Dell'Angelica, E.C.1
  • 5
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    • Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor
    • Dell'Angelica, E.C., Shotelersuk, V., Aguilar, R.C., Gahl, W.A., and Bonifacino, J.S. (1999). Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. Mol. Cell 3, 11-21.
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  • 7
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    • BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor
    • Gerondopoulos, A., Langemeyer, L., Liang, J.R., Linford, A., and Barr, F.A. (2012). BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor. Curr. Biol. 22, 2135-2139.
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    • Wei, A.H., and Li, W. (2013). Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis. Pigment Cell Melanoma Res. 26, 176-192.
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    • Wei, A.H.1    Li, W.2
  • 13
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.