A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)

American Journal of Human Genetics

Volumn 78, Issue 1, 2006, Pages 160-166

  Morgan, Neil V ^a   Pasha, Shanaz ^a   Johnson, Colin A ^a   Ainsworth, John R ^b,c   Eady, Robin A J ^f   Dawood, Ban ^a   McKeown, Carole ^d   Trembath, Richard C ^g   Wilde, Jonathan ^e   Watson, Steve P ^a   Maher, Eamonn R ^a,d  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b CITY HOSPITAL   (United Kingdom)

^c BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^d BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^e UNIVERSITY HOSPITALS BIRMINGHAM NHS FOUNDATION TRUST   (United Kingdom)

^f ST THOMAS HOSPITAL   (United Kingdom)

^g UNIVERSITY OF LEICESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOGENESIS; BLOC1S3 GENE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; GERM LINE; HETEROZYGOSITY; HUMAN; MULTIGENE FAMILY; NONSENSE MUTATION; OCULAR ALBINISM; PRIORITY JOURNAL; SKIN BIOPSY; SKIN PIGMENTATION; THROMBOCYTE ANOMALY; VISUAL ACUITY;

MURINAE;

EID: 29244443387     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/499338     Document Type: Article

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