Literature DB >> 26785811

Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula.

A O Khan1, M Tamimi2, S Lenzner3, H J Bolz3,4.   

Abstract

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Mesh：

Year:  2016        PMID： 26785811     DOI： 10.1111/cge.12715

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  4 in total

1.  Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.

Authors:  Joshi Stephen; Tadafumi Yokoyama; Nathanial J Tolman; Kevin J O'Brien; Elena-Raluca Nicoli; Brian P Brooks; Laryssa Huryn; Steven A Titus; David R Adams; Dong Chen; William A Gahl; Bernadette R Gochuico; May Christine V Malicdan
Journal:  PLoS One       Date:  2017-03-15       Impact factor: 3.240

2.  Prospective study of pediatric patients presenting with idiopathic infantile nystagmus-Management and molecular diagnostics.

Authors:  Nancy Aychoua; Elena Schiff; Samantha Malka; Vijay K Tailor; Hwei Wuen Chan; Ngozi Oluonye; Maria Theodorou; Mariya Moosajee
Journal:  Front Genet       Date:  2022-08-22       Impact factor: 4.772

3.  Hermansky-Pudlak syndrome: Mutation update.

Authors:  Marjan Huizing; May C V Malicdan; Jennifer A Wang; Hadass Pri-Chen; Richard A Hess; Roxanne Fischer; Kevin J O'Brien; Melissa A Merideth; William A Gahl; Bernadette R Gochuico
Journal:  Hum Mutat       Date:  2020-01-23       Impact factor: 4.700

4.  Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism.

Authors:  Sajjad Karim; Samah Saharti; Nofe Alganmi; Zeenat Mirza; Ahmed Alfares; Shereen Turkistany; Manal Al-Attas; Hend Noureldin; Khadega Al Sakkaf; Heba Abusamra; Mohammed Al-Qahtani; Adel Abuzenadah
Journal:  Life (Basel)       Date:  2021-12-23
  4 in total

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