A Novel Two-Nucleotide Deletion of MMADHC Gene Causing cblD Disease in a Chinese Family

Chin Med J (Engl). 2018 Oct 20;131(20):2477-2479. doi: 10.4103/0366-6999.243561.

Authors

Chao Wang¹, Yu-Qin Zhang², Shu-Hong Zhang³, Ying-Tao Meng¹, Shu-Xiang Lin¹, Chun-Quan Cai⁴, Jian-Bo Shu¹

Affiliations

¹ Department of Genetics, Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin 300134, China.
² Department of Neurology, Tianjin Children's Hospital, Tianjin 300134, China.
³ Department of Gastroenterology, Tianjin Children's Hospital, Tianjin 300134, China.
⁴ Department of Neurosurgery, Tianjin Children's Hospital, Tianjin 300134, China.

No abstract available

Publication types

Letter

MeSH terms

Asian People
Child, Preschool
Female
Gene Deletion
Humans
Intracellular Signaling Peptides and Proteins
Male
Mitochondrial Membrane Transport Proteins / genetics*
Nucleotides / genetics*
Pedigree
Vitamin B 12 / metabolism*

Substances

Intracellular Signaling Peptides and Proteins
MMADHC protein, human
Mitochondrial Membrane Transport Proteins
Nucleotides
Vitamin B 12