Work

Compound Heterozygous Mutations in 2 Siblings with Hermansky-Pudlak Syndrome Type 1 (HPS1)

Year: 2010

Type: article

Study design: Case Report

Source: Klinische Pädiatrie

DOI: 10.1055/s-0030-1249628

Authors: K. Sandrock, I. Bartsch, N. Rombach, K. Schmidt, L. Nakamura, I. Hainmann, A. Busse, B. Zieger

Institution: University Medical Center Freiburg

Language: English

Topic: Platelet Disorders and Treatments

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: Novo Nordisk Pharma

OpenAlex ID: W2085155684

FWCI: 0.785

Cites:

Cited by: 14

Related to: 10