Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life.
Gillian C
GC
Lowe
Isabel
I
Sánchez Guiu
Oliver
O
Chapman
José
J
Rivera
Marie
M
Lordkipanidzé
Natalia
N
Dovlatova
Jonathan
J
Wilde
Steve P
SP
Watson
Neil V
NV
Morgan
D000368:Aged; D001777:Blood Coagulation / Q000235:genetics; D002352:Carrier Proteins / Q000097:blood / Q000235:genetics*; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D000074765:Dysbindin; D049029:Dystrophin-Associated Proteins; D005260:Female; D020022:Genetic Predisposition to Disease; D040941:Heredity; D022861:Hermanski-Pudlak Syndrome / Q000097:blood / Q000235:genetics*; D006801:Humans; D018895:Microsatellite Repeats; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011379:Prognosis; D012880:Skin Pigmentation / Q000235:genetics
D002352:Carrier Proteins; D018389:Codon, Nonsense; C432416:DTNBP1 protein, human; D000074765:Dysbindin; D049029:Dystrophin-Associated Proteins