Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A

M. S. Abd Elmaksoud; N. S. Gomaa; H. G. Azouz; C. N.V. On; C. T. Ho; T. E. Omar; J. A. McGrath; A. Onoufriadis

doi:10.1111/ced.14220

Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A

M. S. Abd Elmaksoud, N. S. Gomaa, H. G. Azouz, C. N.V. On, C. T. Ho, T. E. Omar, J. A. McGrath, A. Onoufriadis^*

^*Corresponding author for this work

Dermatology

Research output: Contribution to journal › Comment/debate › peer-review

5 Citations (Scopus)

Original language	English
Pages (from-to)	789-792
Number of pages	4
Journal	Clinical and Experimental Dermatology
Volume	45
Issue number	6
DOIs	https://doi.org/10.1111/ced.14220
Publication status	Published - 1 Aug 2020

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10.1111/ced.14220

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@article{33ed7406c7364ffa9e4136250964a290,

title = "Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A",

author = "{Abd Elmaksoud}, {M. S.} and Gomaa, {N. S.} and Azouz, {H. G.} and On, {C. N.V.} and Ho, {C. T.} and Omar, {T. E.} and McGrath, {J. A.} and A. Onoufriadis",

year = "2020",

month = aug,

day = "1",

doi = "10.1111/ced.14220",

language = "English",

volume = "45",

pages = "789--792",

journal = "Clinical and Experimental Dermatology",

issn = "0307-6938",

publisher = "Wiley-Blackwell",

number = "6",

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TY - JOUR

T1 - Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A

AU - Abd Elmaksoud, M. S.

AU - Gomaa, N. S.

AU - Azouz, H. G.

AU - On, C. N.V.

AU - Ho, C. T.

AU - Omar, T. E.

AU - McGrath, J. A.

AU - Onoufriadis, A.

PY - 2020/8/1

Y1 - 2020/8/1

UR - http://www.scopus.com/inward/record.url?scp=85083263397&partnerID=8YFLogxK

U2 - 10.1111/ced.14220

DO - 10.1111/ced.14220

M3 - Comment/debate

C2 - 32275080

AN - SCOPUS:85083263397

SN - 0307-6938

VL - 45

SP - 789

EP - 792

JO - Clinical and Experimental Dermatology

JF - Clinical and Experimental Dermatology

IS - 6

ER -

Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A

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