Publications:

Primary adrenal insufficiency in two siblings with D-bifunctional protein deficiency.

Molecular Genetics And Metabolism Reports

Chapel-Crespo, Cristel C CC; Villalba, Ricardo R; Wang, Raymond R; Boyer, Monica M; Chang, Richard R; Waterham, Hans R HR; Abdenur, Jose E JE

Publication Date: 2020-09

Variant appearance in text: DBP: 742C>T

PubMed Link: 32528852

Variant Present in the following documents:

• main.pdf

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Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.

American Journal Of Human Genetics

Ferdinandusse, Sacha S; Ylianttila, Mari S MS; Gloerich, Jolein J; Koski, M Kristian MK; Oostheim, Wendy W; Waterham, Hans R HR; Hiltunen, J Kalervo JK; Wanders, Ronald J A RJ; Glumoff, Tuomo T

Publication Date: 2006-01

Variant appearance in text:

PubMed Link: 16385454

Variant Present in the following documents:

• Main text

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