Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.

Huizing, M

Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6. [electronic resource] - Journal of medical genetics Dec 2009 - 803-10 p. digital

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural

1468-6244

10.1136/jmg.2008.065961 doi


Adolescent
Adult
Amino Acid Sequence
Base Sequence
Blotting, Northern
DNA--chemistry
Female
Genetic Variation
Hermanski-Pudlak Syndrome--genetics
Humans
Immunohistochemistry
Intracellular Signaling Peptides and Proteins--genetics
Male
Melanosomes--genetics
Middle Aged
Molecular Sequence Data
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Young Adult