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Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome.
J Dermatol. 2017 Jun; 44(6):e111-e112.JD

Links

Publisher Full Text (DOI)

Authors+Show Affiliations

Shigematsu Y
Department of Dermatology, National Center for Child Health and Development, Tokyo, Japan.
Hayashi R
Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Yoshida K
Department of Dermatology, National Center for Child Health and Development, Tokyo, Japan.
Shimizu A
Department of Dermatology, National Center for Child Health and Development, Tokyo, Japan.
Kubota M
Departments of Neurology, Tokyo, Japan.
Komori M
Departments of Otolaryngology, National Center for Child Health and Development, Tokyo, Japan.
Shimomura Y
Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Niizeki H
Department of Dermatology, National Center for Child Health and Development, Tokyo, Japan.

MeSH

AAA DomainATPases Associated with Diverse Cellular ActivitiesChildElectron Transport Complex IIIFemaleHairHair DiseasesHearing Loss, SensorineuralHeterozygoteHumansMitochondrial DiseasesSequence Deletion

Pub Type(s)

Case Reports
Letter

Language

eng

PubMed ID

28105683

Citation

Shigematsu, Yukiko, et al. "Novel Heterozygous Deletion Mutation c.821delC in the AAA Domain of BCS1L Underlies Björnstad Syndrome." The Journal of Dermatology, vol. 44, no. 6, 2017, pp. e111-e112.
Shigematsu Y, Hayashi R, Yoshida K, et al. Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome. J Dermatol. 2017;44(6):e111-e112.
Shigematsu, Y., Hayashi, R., Yoshida, K., Shimizu, A., Kubota, M., Komori, M., Shimomura, Y., & Niizeki, H. (2017). Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome. The Journal of Dermatology, 44(6), e111-e112. https://doi.org/10.1111/1346-8138.13736
Shigematsu Y, et al. Novel Heterozygous Deletion Mutation c.821delC in the AAA Domain of BCS1L Underlies Björnstad Syndrome. J Dermatol. 2017;44(6):e111-e112. PubMed PMID: 28105683.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome. AU - Shigematsu,Yukiko, AU - Hayashi,Ryota, AU - Yoshida,Kazue, AU - Shimizu,Ai, AU - Kubota,Masaya, AU - Komori,Manabu, AU - Shimomura,Yutaka, AU - Niizeki,Hironori, Y1 - 2017/01/20/ PY - 2017/1/21/pubmed PY - 2019/7/10/medline PY - 2017/1/21/entrez SP - e111 EP - e112 JF - The Journal of dermatology JO - J Dermatol VL - 44 IS - 6 SN - 1346-8138 UR - https://wwww.unboundmedicine.com/medline/citation/28105683/Novel_heterozygous_deletion_mutation_c_821delC_in_the_AAA_domain_of_BCS1L_underlies_Björnstad_syndrome_ DB - PRIME DP - Unbound Medicine ER -