Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report.

Persons

Ingrid Holm

Venue / Journal

Cold Spring Harb Mol Case Stud

Date

Wed, 08/01/2018 - 12:00

Additional Journal Information

4(4)

Authors

Murry JB, Machini K, Ceyhan-Birsoy O, Kritzer A, Krier JB, Lebo MS, Fayer S, Genetti CA, VanNoy GE, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Beggs AH, Rehm HL.

Pubmed URL

http://www.ncbi.nlm.nih.gov/pubmed/29728376